Variant (rsID / SNP)

rs74607195

rs74607195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA3. Location: chromosome 13, position 20,716,885. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GJA3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:20716885
Cytoband: 13q12.11
HGVS: NM_021954.4(GJA3):c.543C>T (p.Cys181=)
Allele change: Synonymous_C181C

Associated conditions / phenotypes

Cataract 14 multiple types

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.