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Variant (rsID / SNP)

rs143343083

GJB2

rs143343083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,423. 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
13:20763423
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
Allele change
Missense_H100Y

Associated conditions / phenotypes

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

Public references

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