Variant (rsID / SNP)

rs104894409

rs104894409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,471. 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: 13:20763471
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
Allele change: Missense_V84L

Associated conditions / phenotypes

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

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.