Variant (rsID / SNP)
rs104894415
rs104894415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB6. Location: chromosome 13, position 20,797,589. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20797589
- Cytoband
- 13q12.11
- HGVS
- NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
- Allele change
- Missense_G11R
Associated conditions / phenotypes
Hidrotic ectodermal dysplasia syndrome|Autosomal dominant nonsyndromic hearing loss 3B|Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B|X-linked mixed hearing loss with perilymphatic gusher|Autosomal dominant nonsyndromic hearing loss 3B|Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.