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Variant (rsID / SNP)

rs2274083

GJB2

rs2274083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,380. Clinical significance in the table: Benign.

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Reference-table entries

GJB2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
13:20763380
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
Allele change
Missense_E114G

Associated conditions / phenotypes

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

Public references

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