Variant (rsID / SNP)

rs111033296

rs111033296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,602. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GJB2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:20763602
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
Allele change: Missense_A40E

Associated conditions / phenotypes

Rare genetic deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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