Variant (rsID / SNP)
rs140698625
rs140698625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC8. Location: chromosome 14, position 89,338,776. Clinical significance in the table: Uncertain significance.
Reference-table entries
TTC8Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:89338776
- Cytoband
- 14q31.3
- HGVS
- NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
- Allele change
- Missense_R245W
Associated conditions / phenotypes
Bardet-Biedl syndrome|Bardet-Biedl syndrome 8|Retinitis pigmentosa 51|Macular dystrophy|Retinitis pigmentosa|Bardet-Biedl syndrome 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.