Variant (rsID / SNP)

rs104894395

rs104894395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,491. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GJB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:20763491
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
Allele change: Nonsense_W77X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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