Gene entry
TTC8
tetratricopeptide repeat domain 8
- Chromosome
- 14
- Cytoband
- 14q31.3
- Variants (rsID)
- 18
TTC8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q31.3). Its official name is “tetratricopeptide repeat domain 8”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs114064158Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Bardet-Biedl syndrome|Bardet-Biedl syndrome 8
- rs119103286Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 8|Bardet-Biedl syndrome|Intellectual disability, moderate|Truncal obesity|Postaxial foot polydactyly|Retinal dystrophy|Retinitis pigmentosa 51
- rs139773124Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome
- rs141304350Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Retinitis pigmentosa|Bardet-Biedl syndrome 8
- rs142938748Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Retinitis pigmentosa|Bardet-Biedl syndrome 8
- rs7145692Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 8|Retinitis pigmentosa
- rs140698625Uncertain significancesingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 8|Retinitis pigmentosa 51|Macular dystrophy|Retinitis pigmentosa|Bardet-Biedl syndrome 8
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.