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Variant (rsID / SNP)

rs57946868

GJA1

rs57946868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA1. Location: chromosome 6, position 121,768,710. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GJA1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:121768710
Cytoband
6q22.31
HGVS
NM_000165.5(GJA1):c.717G>A (p.Arg239=)
Allele change
Synonymous_R239R

Associated conditions / phenotypes

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

Public references

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