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Variant (rsID / SNP)

rs28931593

GJB2

rs28931593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,497. 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
13:20763497
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
Allele change
Missense_R75Q

Associated conditions / phenotypes

Palmoplantar keratoderma-deafness syndrome|Autosomal dominant nonsyndromic hearing loss 3A|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A|Hereditary palmoplantar keratoderma|Nonsyndromic genetic hearing loss|Hearing loss, autosomal recessive

Public references

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