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Variant (rsID / SNP)

rs376898963

GJB2

rs376898963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,228. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GJB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:20763228
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
Allele change
Missense_R165W

Associated conditions / phenotypes

Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|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.