Variant (rsID / SNP)
rs119103286
rs119103286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC8. Location: chromosome 14, position 89,307,540. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTC8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:89307540
- Cytoband
- 14q31.3
- HGVS
- NM_144596.4(TTC8):c.489G>A (p.Thr163=)
- Allele change
- Silent
Associated conditions / phenotypes
Bardet-Biedl syndrome 8|Bardet-Biedl syndrome|Intellectual disability, moderate|Truncal obesity|Postaxial foot polydactyly|Retinal dystrophy|Retinitis pigmentosa 51
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.