Variant (rsID / SNP)

rs111033360

rs111033360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,222. 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: 13:20763222
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.499G>A (p.Val167Met)
Allele change: Missense_V167M

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A

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.