Variant (rsID / SNP)

rs104894401

rs104894401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,293. 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: 13:20763293
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
Allele change: Missense_R143Q

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A

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.