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Variant (rsID / SNP)

rs104894398

GJB2

rs104894398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,582. 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
13:20763582
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
Allele change
Nonsense_E47X

Associated conditions / phenotypes

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

Public references

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