Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111033299

GJB2

rs111033299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,438. 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
13:20763438
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
Allele change
Missense_V95M

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Nonsyndromic genetic hearing loss|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.