Variant (rsID / SNP)

rs111033204

rs111033204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,421. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 13:20763421
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.299_300del (p.His100fs)

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|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.