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Variant (rsID / SNP)

rs104894397

GJB2

rs104894397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,492. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:20763492
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
Allele change
Missense_W77R

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Hearing impairment

Public references

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