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Variant (rsID / SNP)

rs111033253

GJB2

rs111033253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,395. 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
Deletion
Chromosome / position
13:20763395
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)

Associated conditions / phenotypes

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