Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs786204690

GJB2

rs786204690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,313. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GJB2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:20763313
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
Allele change
Nonsense_Y136X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A

Public references

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