Variant (rsID / SNP)

rs111033361

rs111033361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,494. 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: 13:20763494
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
Allele change: Missense_L76P

Associated conditions / phenotypes

Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A

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.