Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs80338944

GJB2

rs80338944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,490. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GJB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:20763490
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
Allele change
Nonsense_W77X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|8 conditions|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Hearing loss, autosomal recessive|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.