Variant (rsID / SNP)
rs104894478
rs104894478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIX1. Location: chromosome 14, position 61,115,522. Clinical significance in the table: Pathogenic.
Reference-table entries
SIX1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:61115522
- Cytoband
- 14q23.1
- HGVS
- NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
- Allele change
- Missense_Y129C
Associated conditions / phenotypes
Branchiootic syndrome 3|Branchiootorenal syndrome 1|Autosomal dominant nonsyndromic hearing loss 23|Autosomal dominant nonsyndromic hearing loss 23|Branchiootic syndrome 3|Branchiootorenal syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.