Variant (rsID / SNP)

rs121434557

rs121434557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA5. Location: chromosome 1, position 147,231,061. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GJA5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:147231061
Cytoband: 1q21.2
HGVS: NM_181703.4(GJA5):c.286G>T (p.Ala96Ser)
Allele change: Silent

Associated conditions / phenotypes

Atrial fibrillation, familial, 11|Atrial standstill 1|Atrial fibrillation, familial, 11

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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