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Variant (rsID / SNP)

rs111033420

GJB2

rs111033420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,265. 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
13:20763265
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
Allele change
Nonsense_Y152X

Associated conditions / phenotypes

Rare genetic deafness|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.