{"_id":"chr19:g.38565541G>A","_version":2,"chrom":"19","clingen":{"caid":"CA308109525"},"clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":532958,"alt":"A","chrom":"19","cytogenic":"19q13.2","gene":{"id":"6261","symbol":"RYR1"},"hg19":{"end":39056181,"start":39056181},"hg38":{"end":38565541,"start":38565541},"hgvs":{"coding":["LRG_766t1:c.13207G>A","NM_000540.3:c.13207G>A","NM_001042723.2:c.13192G>A"],"genomic":["LRG_766:g.136842G>A","NC_000019.10:g.38565541G>A","NC_000019.9:g.39056181G>A","NG_008866.1:g.136842G>A"],"protein":["LRG_766p1:p.Ala4403Thr","NP_000531.2:p.Ala4403Thr","NP_000531.2:p.Ala4403Thr","NP_001036188.1:p.Ala4398Thr"]},"rcv":[{"accession":"RCV000655556","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"medgen":"CN239331"},"name":"RYR1-related disorder","synonyms":["RYR1-Related Disorders","RYR1-related condition"]},"last_evaluated":"2022-10-13","number_submitters":1,"origin":"germline","preferred_name":"NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)","review_status":"criteria provided, single submitter"},{"accession":"RCV000996906","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2023-02-03","number_submitters":2,"origin":"germline","preferred_name":"NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)","review_status":"criteria provided, multiple submitters, no conflicts"},{"accession":"RCV005004317","clinical_significance":"Uncertain significance","conditions":[{"identifiers":{"medgen":"C5830701","mondo":"MONDO:0007294","omim":"117000","orphanet":"597"},"name":"Central core myopathy (CMYO1A)","synonyms":["CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA","Central core disease","Myopathy, central fibrillar"]},{"identifiers":{"medgen":"C2930980","mondo":"MONDO:0007783","omim":"145600","orphanet":"423"},"name":"Malignant hyperthermia, susceptibility to, 1 (MHS1)","synonyms":["Anesthesia related hyperthermia","Malignant hyperpyrexia","Fulminating hyperpyrexia","Pharmacogenic myopathy","Malignant hyperthermia suceptibility 1"]},{"identifiers":{"human_phenotype_ontology":"HP:0003804","medgen":"C1850674","mondo":"MONDO:0009712","omim":"255320","orphanet":"598"},"name":"Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)","synonyms":["MULTICORE MYOPATHY","Minicore myopathy with external ophthalmoplegia","Multicore myopathy with external ophthalmoplegia","MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA","Congenital myopathy 1B, autosomal recessive","Minicore myopathy"]},{"identifiers":{"medgen":"C1840365","mondo":"MONDO:0020485","omim":"619542"},"name":"King Denborough syndrome (KDS)","synonyms":["King syndrome"]}],"last_evaluated":"2024-01-05","number_submitters":1,"origin":"germline","preferred_name":"NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)","review_status":"criteria provided, single submitter"}],"ref":"G","rsid":"rs1051206491","type":"single nucleotide variant","variant_id":544420},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"T","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[4398,4403],"ref":"A","refcodon":["GCA","GCA"]},"alfa":{"african":{"ac":0,"af":0.0,"an":2898},"african_american":{"ac":0,"af":0.0,"an":2784},"african_others":{"ac":0,"af":0.0,"an":114},"asian":{"ac":0,"af":0.0,"an":112},"east_asian":{"ac":0,"af":0.0,"an":86},"european":{"ac":0,"af":0.0,"an":9688},"latin_american_1":{"ac":0,"af":0.0,"an":146},"latin_american_2":{"ac":0,"af":0.0,"an":610},"other":{"ac":0,"af":0.0,"an":496},"other_asian":{"ac":0,"af":0.0,"an":26},"south_asian":{"ac":0,"af":0.0,"an":98},"total":{"ac":0,"af":0.0,"an":14048}},"alphamissense":{"pred":"B","rankscore":0.0237,"score":0.0666},"alt":"A","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["alternative2","principal3"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.49552,"score":-0.0150745},"no_af":{"pred":"T","rankscore":0.48882,"score":-0.25943}},"bstatistic":{"converted_rankscore":0.61982,"score":659.0},"cadd":{"phred":17.18,"raw_rankscore":0.26622,"raw_score":2.092845},"cds_strand":["+","+"],"chagyrskaya_neandertal":["G","G"],"chrom":"19","clinpred":{"pred":"T","rankscore":0.04174,"score":0.0426486109432861},"clinvar":{"clinvar_id":"544420","clnsig":"Uncertain_significance","hgvs":"NC_000019.10:g.38565541G>A","medgen":["C3661900","C2930980","C1840365","C0546264","C0751951","C1850674","CN239331"],"omim":["145600","619542","117000","255320"],"orphanet":["423","2020","597","598","98905"],"review":"criteria_provided,_multiple_submitters,_no_conflicts","trait":["not_provided","Malignant_hyperthermia,_susceptibility_to,_1","King_Denborough_syndrome","Congenital_myopathy_with_fiber_type_disproportion","Central_core_myopathy","Congenital_multicore_myopathy_with_external_ophthalmoplegia","RYR1-Related_Disorders"],"var_source":"ClinGen:CA308109525"},"dann":{"rankscore":0.27339,"score":0.9560141219460282},"denisova":["G","G"],"deogen2":{"pred":"D","rankscore":0.85572,"score":0.566428},"eigen":{"phred_coding":0.5048058,"raw_coding":-0.912341692395232,"raw_coding_rankscore":0.10553},"eigen-pc":{"phred_coding":0.6869544,"raw_coding":-0.851106523157998,"raw_coding_rankscore":0.1326},"ensembl":{"geneid":["ENSG00000196218","ENSG00000196218"],"proteinid":["ENSP00000347667","ENSP00000352608"],"transcriptid":["ENST00000355481","ENST00000359596"]},"esm1b":{"pred":["T","T"],"rankscore":0.39834,"score":[-5.289,-5.289]},"eve":{"class10_pred":"B","class20_pred":"B","class25_pred":"B","class30_pred":"B","class40_pred":"B","class50_pred":"B","class60_pred":"B","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.04733,"score":0.08489941074900384},"fathmm":{"converted_rankscore":0.93532,"pred":["D","D"],"score":[-3.25,-3.25]},"fathmm-mkl":{"coding_group":"AEFDGBHCI","coding_pred":"N","coding_rankscore":0.0993,"coding_score":0.0436},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.06139,"coding_score":0.040872},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.17405,"score":0.552344},"h1-hesc":{"confidence_value":0,"rankscore":0.0671,"score":0.459711},"huvec":{"confidence_value":0,"rankscore":0.5835,"score":0.63947},"integrated":{"confidence_value":0,"rankscore":0.34471,"score":0.59774}},"gencode_basic":["Y","Y"],"genename":["RYR1","RYR1"],"genocanyon":{"rankscore":0.74766,"score":0.999999998426266},"gerp":{"91_mammals":{"rankscore":0.2475,"score":0.452}},"gerp++":{"nr":2.48,"rs":2.48,"rs_rankscore":0.29194},"gmvp":{"rankscore":0.22426,"score":0.22511672535376617},"hg18":{"end":43748021,"start":43748021},"hg19":{"end":39056181,"start":39056181},"hg38":{"end":38565541,"start":38565541},"hgvsc":["c.13192G>A","c.13207G>A"],"hgvsp":["p.A4398T","p.Ala4398Thr","p.A4403T","p.Ala4403Thr"],"interpro":{"domain":"Ryanodine Receptor TM 4-6"},"list-s2":{"pred":["T","T"],"rankscore":0.15352,"score":[0.49515,0.49515]},"lrt":{"converted_rankscore":0.48594,"omega":0.077252,"pred":"U","score":0.00017},"m-cap":{"pred":"D","rankscore":0.99735,"score":0.959688},"metalr":{"pred":"T","rankscore":0.81014,"score":0.4982},"metarnn":{"pred":["T","T"],"rankscore":0.29549,"score":[0.1569531,0.1569531]},"metasvm":{"pred":"T","rankscore":0.65562,"score":-0.5814},"mpc":{"rankscore":0.52138,"score":0.55375861919},"mutationassessor":{"pred":"L","rankscore":0.21042,"score":0.835},"mutationtaster":{"aae":["A4403T","A4398T","A4398T"],"converted_rankscore":0.19363,"model":["simple_aae","simple_aae","simple_aae"],"pred":["N","N","N"],"score":[0.999939,0.999939,0.999939]},"mutformer":{"rankscore":0.68621,"score":0.12268277},"mutpred":{"aa_change":"A4403T","accession":"P21817","pred":{"mechanism":"Gain of phosphorylation at A4403","p_val":0.0031},"rankscore":0.35897,"score":0.357},"mvp":{"rankscore":0.80443,"score":[0.806249879698,0.806249879698]},"phactboost":{"rankscore":0.49512,"score":0.192592886682514},"phastcons":{"100way_vertebrate":{"rankscore":0.25297,"score":0.297},"17way_primate":{"rankscore":0.14268,"score":0.04},"470way_mammalian":{"rankscore":0.33993,"score":0.998}},"phylop":{"100way_vertebrate":{"rankscore":0.4742,"score":2.779},"17way_primate":{"rankscore":0.05652,"score":-0.344},"470way_mammalian":{"rankscore":0.51702,"score":5.954}},"polyphen2":{"hdiv":{"pred":["B","B"],"rankscore":0.18235,"score":[0.016,0.02]},"hvar":{"pred":["B","B"],"rankscore":0.11217,"score":[0.003,0.005]}},"primateai":{"pred":"D","rankscore":0.93343,"score":0.875483393669},"provean":{"converted_rankscore":0.13418,"pred":["N","N"],"score":[-0.38,-0.38]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.45592,"score":[0.183,0.183]},"rsid":"rs1051206491","sift":{"converted_rankscore":0.06523,"pred":["T","T"],"score":[0.557,0.553]},"siphy_29way":{"logodds_rankscore":0.21773,"logodds_score":6.5781,"pi":{"a":0.2282,"c":0.0,"g":0.7718,"t":0.0}},"tsl":[1,5],"uniprot":[{"acc":"P21817-2","entry":"RYR1_HUMAN"},{"acc":"P21817","entry":"RYR1_HUMAN"}],"varity":{"er":{"rankscore":0.20051,"score":0.086523674},"er_loo":{"rankscore":0.20051,"score":0.086523674},"r":{"rankscore":0.03786,"score":0.03418403},"r_loo":{"rankscore":0.03785,"score":0.03418403}},"vep_canonical":"YES","vest4":{"rankscore":0.19459,"score":[0.07,0.18]},"vindijia_neandertal":["G","G"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"gnomad_exomes":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0,"gnomad_exomes":0.0}},{"allele":"C","freq":{"dbgap_popfreq":0.0}}],"alt":"A","chrom":"19","dbsnp_build":156,"gene":{"geneid":6261,"is_pseudo":false,"name":"ryanodine receptor 1","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":13345,"seq_id":"NM_000540.3"},"hgvs":"NM_000540.3:c.13207=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":4402,"seq_id":"NP_000531.2"}}},"protein_product":{"refseq":"NP_000531.2"},"refseq":"NM_000540.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":13330,"seq_id":"NM_001042723.2"},"hgvs":"NM_001042723.2:c.13192=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":4397,"seq_id":"NP_001036188.1"}}},"protein_product":{"refseq":"NP_001036188.1"},"refseq":"NM_001042723.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":13327,"seq_id":"XM_006723317.3"},"hgvs":"XM_006723317.3:c.13189=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":4396,"seq_id":"XP_006723380.1"}}},"protein_product":{"refseq":"XP_006723380.1"},"refseq":"XM_006723317.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":13312,"seq_id":"XM_006723319.3"},"hgvs":"XM_006723319.3:c.13174=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":4391,"seq_id":"XP_006723382.1"}}},"protein_product":{"refseq":"XP_006723382.1"},"refseq":"XM_006723319.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":13345,"seq_id":"XM_011527205.3"},"hgvs":"XM_011527205.3:c.13207=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":4402,"seq_id":"XP_011525507.1"}}},"protein_product":{"refseq":"XP_011525507.1"},"refseq":"XM_011527205.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"protein_product":{"refseq":"XP_047295158.1"},"refseq":"XM_047439202.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]}],"strand":"+","symbol":"RYR1"},"hg38":{"end":38565541,"start":38565541},"ref":"G","rsid":"rs1051206491","vartype":"snv"},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":10,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":1,"ac_amr_female":0,"ac_amr_male":1,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":0,"ac_female":6,"ac_fin":3,"ac_fin_female":2,"ac_fin_male":1,"ac_male":4,"ac_nfe":5,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":3,"ac_nfe_male":2,"ac_nfe_nwe":5,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_nfe_swe":0,"ac_oth":1,"ac_oth_female":1,"ac_oth_male":0,"ac_sas":0,"ac_sas_female":0,"ac_sas_male":0},"af":{"af":0.000101655,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0000489476,"af_amr_female":0.0,"af_amr_male":0.00011773,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.0,"af_female":0.000138262,"af_fin":0.000583204,"af_fin_female":0.000752445,"af_fin_male":0.000402253,"af_male":0.000072759,"af_nfe":0.000136911,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.0001868,"af_nfe_male":0.0000977517,"af_nfe_nwe":0.000235338,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_nfe_swe":0.0,"af_oth":0.000335345,"af_oth_female":0.000712251,"af_oth_male":0.0,"af_sas":0.0,"af_sas_female":0.0,"af_sas_male":0.0},"alleles":"A","alt":"A","an":{"an":98372,"an_afr":1584,"an_afr_female":898,"an_afr_male":686,"an_amr":20430,"an_amr_female":11936,"an_amr_male":8494,"an_asj":6988,"an_asj_female":3170,"an_asj_male":3818,"an_eas":5886,"an_eas_female":2928,"an_eas_jpn":8,"an_eas_kor":1250,"an_eas_male":2958,"an_eas_oea":4628,"an_female":43396,"an_fin":5144,"an_fin_female":2658,"an_fin_male":2486,"an_male":54976,"an_nfe":36520,"an_nfe_bgr":248,"an_nfe_est":102,"an_nfe_female":16060,"an_nfe_male":20460,"an_nfe_nwe":21246,"an_nfe_onf":12188,"an_nfe_seu":1216,"an_nfe_swe":1520,"an_oth":2982,"an_oth_female":1404,"an_oth_male":1578,"an_sas":18838,"an_sas_female":4342,"an_sas_male":14496},"baseqranksum":-0.736,"chrom":"19","clippingranksum":0.0,"dp":2431462,"fs":6.158,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_jpn":0,"hom_eas_kor":0,"hom_eas_male":0,"hom_eas_oea":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_bgr":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_nfe_swe":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0,"hom_sas":0,"hom_sas_female":0,"hom_sas_male":0},"inbreedingcoeff":-0.0484,"mq":{"mq":60.0,"mqranksum":0.361},"pab_max":1.0,"pos":38565541,"qd":7.51,"readposranksum":0.572,"ref":"G","rf":0.367685,"rsid":"rs1051206491","sor":1.145,"type":"snp","vqslod":-0.7832,"vqsr_culprit":"MQ"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":19,"ac_afr":2,"ac_afr_xx":2,"ac_afr_xy":0,"ac_ami":0,"ac_ami_xx":0,"ac_ami_xy":0,"ac_amr":0,"ac_amr_xx":0,"ac_amr_xy":0,"ac_asj":0,"ac_asj_xx":0,"ac_asj_xy":0,"ac_eas":0,"ac_eas_xx":0,"ac_eas_xy":0,"ac_fin":4,"ac_fin_xx":1,"ac_fin_xy":3,"ac_mid":0,"ac_mid_xx":0,"ac_mid_xy":0,"ac_nfe":13,"ac_nfe_xx":7,"ac_nfe_xy":6,"ac_oth":0,"ac_oth_xx":0,"ac_oth_xy":0,"ac_sas":0,"ac_sas_xx":0,"ac_sas_xy":0,"ac_xx":10,"ac_xy":9},"af":{"af":0.000124949,"af_afr":0.0000482556,"af_afr_xx":0.0000902853,"af_afr_xy":0.0,"af_ami":0.0,"af_ami_xx":0.0,"af_ami_xy":0.0,"af_amr":0.0,"af_amr_xx":0.0,"af_amr_xy":0.0,"af_asj":0.0,"af_asj_xx":0.0,"af_asj_xy":0.0,"af_eas":0.0,"af_eas_xx":0.0,"af_eas_xy":0.0,"af_fin":0.000377929,"af_fin_xx":0.000391543,"af_fin_xy":0.000373599,"af_mid":0.0,"af_mid_xx":0.0,"af_mid_xy":0.0,"af_nfe":0.000191278,"af_nfe_xx":0.000178026,"af_nfe_xy":0.000209468,"af_oth":0.0,"af_oth_xx":0.0,"af_oth_xy":0.0,"af_sas":0.0,"af_sas_xx":0.0,"af_sas_xy":0.0,"af_xx":0.000128564,"af_xy":0.000121163},"alleles":"A","alt":"A","an":{"an":152062,"an_afr":41446,"an_afr_xx":22152,"an_afr_xy":19294,"an_ami":912,"an_ami_xx":470,"an_ami_xy":442,"an_amr":15276,"an_amr_xx":6784,"an_amr_xy":8492,"an_asj":3468,"an_asj_xx":1868,"an_asj_xy":1600,"an_eas":5174,"an_eas_xx":2276,"an_eas_xy":2898,"an_fin":10584,"an_fin_xx":2554,"an_fin_xy":8030,"an_mid":314,"an_mid_xx":162,"an_mid_xy":152,"an_nfe":67964,"an_nfe_xx":39320,"an_nfe_xy":28644,"an_oth":2090,"an_oth_xx":1030,"an_oth_xy":1060,"an_sas":4834,"an_sas_xx":1166,"an_sas_xy":3668,"an_xx":77782,"an_xy":74280},"as_fs":4.91519,"as_mq":{"as_mq":60.0,"as_mqranksum":0.115},"as_pab_max":1.0,"as_qd":13.2494,"as_readposranksum":0.281,"as_sor":0.937028,"as_vqslod":5.2625,"chrom":"19","hom":{"hom":0,"hom_afr":0,"hom_afr_xx":0,"hom_afr_xy":0,"hom_ami":0,"hom_ami_xx":0,"hom_ami_xy":0,"hom_amr":0,"hom_amr_xx":0,"hom_amr_xy":0,"hom_asj":0,"hom_asj_xx":0,"hom_asj_xy":0,"hom_eas":0,"hom_eas_xx":0,"hom_eas_xy":0,"hom_fin":0,"hom_fin_xx":0,"hom_fin_xy":0,"hom_mid":0,"hom_mid_xx":0,"hom_mid_xy":0,"hom_nfe":0,"hom_nfe_xx":0,"hom_nfe_xy":0,"hom_oth":0,"hom_oth_xx":0,"hom_oth_xy":0,"hom_sas":0,"hom_sas_xx":0,"hom_sas_xy":0,"hom_xx":0,"hom_xy":0},"inbreedingcoeff":-0.000124693,"pos":38565541,"ref":"G","rsid":"rs1051206491","type":"snp"},"hg38":{"end":38565541,"start":38565541},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"15391","position":"13337"},"cds":{"length":"15117","position":"13207"},"effect":"missense_variant","feature_id":"NM_000540.2","feature_type":"transcript","gene_id":"RYR1","genename":"RYR1","hgvs_c":"c.13207G>A","hgvs_p":"p.Ala4403Thr","protein":{"length":"5038","position":"4403"},"putative_impact":"MODERATE","rank":"91","total":"106","transcript_biotype":"protein_coding"},{"cdna":{"length":"15376","position":"13322"},"cds":{"length":"15102","position":"13192"},"effect":"missense_variant","feature_id":"NM_001042723.1","feature_type":"transcript","gene_id":"RYR1","genename":"RYR1","hgvs_c":"c.13192G>A","hgvs_p":"p.Ala4398Thr","protein":{"length":"5033","position":"4398"},"putative_impact":"MODERATE","rank":"90","total":"105","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"38565541","ref":"G"}}