{"_id":"chr12:g.48538922G>A","_version":2,"chrom":"12","clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":1143525,"alt":"A","chrom":"12","cytogenic":"12q13.11","gene":{"id":"5213","symbol":"PFKM"},"hg19":{"end":48538922,"start":48538922},"hg38":{"end":48145139,"start":48145139},"hgvs":{"coding":["LRG_1177t1:c.2092+9G>A","NM_000289.6:c.2092+9G>A","NM_001166686.2:c.2305+9G>A","NM_001166687.2:c.2092+9G>A","NM_001166688.2:c.2092+9G>A","NM_001354735.1:c.2401+9G>A","NM_001354736.1:c.2401+9G>A","NM_001354737.1:c.2305+9G>A","NM_001354738.1:c.2305+9G>A","NM_001354739.1:c.2305+9G>A","NM_001354740.1:c.2236+9G>A","NM_001354741.2:c.2116+9G>A","NM_001354742.2:c.2092+9G>A","NM_001354743.2:c.2092+9G>A","NM_001354744.2:c.2092+9G>A","NM_001354745.2:c.2005+9G>A","NM_001354746.2:c.1966+9G>A","NM_001354747.2:c.1942+9G>A","NM_001354748.2:c.1942+9G>A","NM_001363619.2:c.1999+9G>A"],"genomic":["LRG_1177:g.44887G>A","NC_000012.11:g.48538922G>A","NC_000012.12:g.48145139G>A","NG_016199.2:g.44887G>A"],"protein":[""]},"rcv":{"accession":"RCV001486462","clinical_significance":"Likely benign","conditions":{"identifiers":{"medgen":"C0017926","mondo":"MONDO:0009295","omim":"232800","orphanet":"371"},"name":"Glycogen storage disease, type VII (GSD7)","synonyms":["GSD VII","MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY","PFKM DEFICIENCY","TARUI DISEASE","Glycogen storage disease type 7"]},"last_evaluated":"2024-02-29","number_submitters":1,"origin":"germline","preferred_name":"NM_000289.6(PFKM):c.2092+9G>A","review_status":"criteria provided, single submitter"},"ref":"G","rsid":"rs371778846","type":"single nucleotide variant","variant_id":1147057},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"alspac":1.0,"dbgap_popfreq":1.0,"exac":1.0,"gnomad":1.0,"goesp":1.0,"topmed":1.0,"twinsuk":1.0}},{"allele":"T","freq":{"alspac":0.0,"dbgap_popfreq":0.0,"exac":0.0,"gnomad":0.0,"goesp":0.0,"topmed":0.0,"twinsuk":0.0}}],"alt":"A","chrom":"12","dbsnp_build":156,"gene":{"geneid":5213,"is_pseudo":false,"name":"phosphofructokinase, muscle","rnas":[{"hgvs":"NM_000289.6:c.2092+9=","protein_product":{"refseq":"NP_000280.1"},"refseq":"NM_000289.6","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001166686.2:c.2305+9=","protein_product":{"refseq":"NP_001160158.1"},"refseq":"NM_001166686.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001166687.2:c.2092+9=","protein_product":{"refseq":"NP_001160159.1"},"refseq":"NM_001166687.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001166688.2:c.2092+9=","protein_product":{"refseq":"NP_001160160.1"},"refseq":"NM_001166688.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354735.1:c.2401+9=","protein_product":{"refseq":"NP_001341664.1"},"refseq":"NM_001354735.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354736.1:c.2401+9=","protein_product":{"refseq":"NP_001341665.1"},"refseq":"NM_001354736.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354737.1:c.2305+9=","protein_product":{"refseq":"NP_001341666.1"},"refseq":"NM_001354737.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354738.1:c.2305+9=","protein_product":{"refseq":"NP_001341667.1"},"refseq":"NM_001354738.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354739.1:c.2305+9=","protein_product":{"refseq":"NP_001341668.1"},"refseq":"NM_001354739.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354740.1:c.2236+9=","protein_product":{"refseq":"NP_001341669.1"},"refseq":"NM_001354740.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354741.2:c.2116+9=","protein_product":{"refseq":"NP_001341670.1"},"refseq":"NM_001354741.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354742.2:c.2092+9=","protein_product":{"refseq":"NP_001341671.1"},"refseq":"NM_001354742.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354743.2:c.2092+9=","protein_product":{"refseq":"NP_001341672.1"},"refseq":"NM_001354743.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354744.2:c.2092+9=","protein_product":{"refseq":"NP_001341673.1"},"refseq":"NM_001354744.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354745.2:c.2005+9=","protein_product":{"refseq":"NP_001341674.1"},"refseq":"NM_001354745.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354746.2:c.1966+9=","protein_product":{"refseq":"NP_001341675.1"},"refseq":"NM_001354746.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354747.2:c.1942+9=","protein_product":{"refseq":"NP_001341676.1"},"refseq":"NM_001354747.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354748.2:c.1942+9=","protein_product":{"refseq":"NP_001341677.1"},"refseq":"NM_001354748.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001363619.2:c.1999+9=","protein_product":{"refseq":"NP_001350548.1"},"refseq":"NM_001363619.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148954.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148955.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148956.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148957.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148958.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"refseq":"NR_148959.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005268974.2:c.2401+9=","protein_product":{"refseq":"XP_005269031.1"},"refseq":"XM_005268974.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005268976.4:c.2401+9=","protein_product":{"refseq":"XP_005269033.1"},"refseq":"XM_005268976.4","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011538487.2:c.2518+9=","protein_product":{"refseq":"XP_011536789.2"},"refseq":"XM_011538487.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017019469.2:c.2212+9=","protein_product":{"refseq":"XP_016874958.1"},"refseq":"XM_017019469.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_024449020.2:c.2314+9=","protein_product":{"refseq":"XP_024304788.1"},"refseq":"XM_024449020.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_024449021.2:c.2191+9=","protein_product":{"refseq":"XP_024304789.1"},"refseq":"XM_024449021.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_024449022.2:c.2092+9=","protein_product":{"refseq":"XP_024304790.1"},"refseq":"XM_024449022.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047428999.1:c.2611+9=","protein_product":{"refseq":"XP_047284955.1"},"refseq":"XM_047428999.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047429000.1:c.2515+9=","protein_product":{"refseq":"XP_047284956.1"},"refseq":"XM_047429000.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047429001.1:c.2410+9=","protein_product":{"refseq":"XP_047284957.1"},"refseq":"XM_047429001.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047429002.1:c.2221+9=","protein_product":{"refseq":"XP_047284958.1"},"refseq":"XM_047429002.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047429003.1:c.2143+9=","protein_product":{"refseq":"XP_047284959.1"},"refseq":"XM_047429003.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047429004.1:c.2098+9=","protein_product":{"refseq":"XP_047284960.1"},"refseq":"XM_047429004.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"+","symbol":"PFKM"},"hg19":{"end":48538922,"start":48538922},"ref":"G","rsid":"rs371778846","vartype":"snv"},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":2,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":2,"ac_eas_female":2,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":2,"ac_female":2,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":0,"ac_nfe":0,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":0,"ac_nfe_male":0,"ac_nfe_nwe":0,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_nfe_swe":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0,"ac_sas":0,"ac_sas_female":0,"ac_sas_male":0},"af":{"af":7.95507e-6,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.000108731,"af_eas_female":0.000214408,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.000138658,"af_female":0.0000173094,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0,"af_nfe":0.0,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.0,"af_nfe_male":0.0,"af_nfe_nwe":0.0,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_nfe_swe":0.0,"af_oth":0.0,"af_oth_female":0.0,"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":251412,"an_afr":16256,"an_afr_female":10070,"an_afr_male":6186,"an_amr":34592,"an_amr_female":20270,"an_amr_male":14322,"an_asj":10078,"an_asj_female":4898,"an_asj_male":5180,"an_eas":18394,"an_eas_female":9328,"an_eas_jpn":152,"an_eas_kor":3818,"an_eas_male":9066,"an_eas_oea":14424,"an_female":115544,"an_fin":21648,"an_fin_female":10374,"an_fin_male":11274,"an_male":135868,"an_nfe":113688,"an_nfe_bgr":2668,"an_nfe_est":242,"an_nfe_female":50132,"an_nfe_male":63556,"an_nfe_nwe":42168,"an_nfe_onf":30974,"an_nfe_seu":11502,"an_nfe_swe":26134,"an_oth":6140,"an_oth_female":2928,"an_oth_male":3212,"an_sas":30616,"an_sas_female":7544,"an_sas_male":23072},"baseqranksum":-1.372,"chrom":"12","clippingranksum":-0.491,"dp":14152288,"fs":0.524,"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":0.0,"mq":{"mq":59.2,"mqranksum":0.17},"pab_max":0.821177,"pos":48538922,"qd":12.67,"readposranksum":0.88,"ref":"G","rf":0.930927,"rsid":"rs371778846","sor":0.644,"type":"snp","vqslod":2.61,"vqsr_culprit":"MQ"},"hg19":{"end":48538922,"start":48538922},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319296.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4227C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319297.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4227C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319298.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4227C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319299.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4227C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319300.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4978C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_001319301.1","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4978C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"distance_to_feature":"2649","effect":"downstream_gene_variant","feature_id":"NM_024095.4","feature_type":"transcript","gene_id":"ASB8","genename":"ASB8","hgvs_c":"c.*4227C>T","putative_impact":"MODIFIER","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001166686.1","feature_type":"transcript","gene_id":"PFKM","genename":"PFKM","hgvs_c":"c.2305+9G>A","putative_impact":"MODIFIER","rank":"23","total":"24","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_000289.5","feature_type":"transcript","gene_id":"PFKM","genename":"PFKM","hgvs_c":"c.2092+9G>A","putative_impact":"MODIFIER","rank":"21","total":"22","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001166687.1","feature_type":"transcript","gene_id":"PFKM","genename":"PFKM","hgvs_c":"c.2092+9G>A","putative_impact":"MODIFIER","rank":"21","total":"22","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001166688.1","feature_type":"transcript","gene_id":"PFKM","genename":"PFKM","hgvs_c":"c.2092+9G>A","putative_impact":"MODIFIER","rank":"20","total":"21","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"48538922","ref":"G"}}