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Variant (rsID / SNP)

rs150529554

GJB2

rs150529554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,366. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GJB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:20763366
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
Allele change
Missense_E119K

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Ichthyosis, hystrix-like, with hearing loss|Hearing loss|Sensorineural hearing loss disorder

Public references

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