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Variant (rsID / SNP)

rs74315318

GJB3

rs74315318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB3. Location: chromosome 1, position 35,250,910. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GJB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:35250910
Cytoband
1p34.3
HGVS
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
Allele change
Missense_E183K

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 2B|Erythrokeratodermia variabilis et progressiva 1

Public references

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