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Variant (rsID / SNP)

rs111033338

GJB6

rs111033338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB6. Location: chromosome 13, position 20,797,025. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GJB6Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
13:20797025
Cytoband
13q12.11
HGVS
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
Allele change
Missense_S199T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome|Hidrotic ectodermal dysplasia syndrome

Public references

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