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Variant (rsID / SNP)

rs104893965

GJA1

rs104893965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA1. Location: chromosome 6, position 121,769,120. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GJA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:121769120
Cytoband
6q22.31
HGVS
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
Allele change
Missense_R376Q

Associated conditions / phenotypes

Atrioventricular septal defect 3|Hypoplastic left heart syndrome 1|Oculodentodigital dysplasia, autosomal recessive|Syndactyly type 3|Oculodentodigital dysplasia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.