{{Rsnum
|rsid=2227885
|Chromosome=6
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GJA1
|position=121447932
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJA1
}}{{omim
|id=121014
|rsnum=2227885
|variant=0011
}}{{ClinVar
|rsid=2227885
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=121769078
|CHROM=6
|dbSNPBuildID=98
|SSR=1
|SAO=1
|VP=0x050260000000070102110100
|GENEINFO=GJA1:2697
|GENE_NAME=GJA1
|GENE_ID=2697
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.121769078G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=121014.0011
|CLNSIG=5
|CLNCUI=C0152101; C0344783
|CLNDBN=Hypoplastic left heart syndrome; Atrioventricular septal defect and common atrioventricular junction
|Disease=Hypoplastic left heart syndrome; Atrioventricular septal defect and common atrioventricular junction
|CLNACC=RCV000018511.26; RCV000018512.26
|Tags=PM;S3D;VLD;G5A;G5;GNO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0152101:241550:2248:62067003; C0344783:600309:253414002
}}{{GET Evidence
|gene=GJA1
|aa_change=Arg362Gln
|aa_change_short=R362Q
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2227885
|overall_frequency_n=1
|overall_frequency_d=126
|overall_frequency=0.00793651
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.989
|genetests_testable=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=3
}}