Gene entry
TTPA
alpha tocopherol transfer protein
- Chromosome
- 8
- Cytoband
- 8q12.3
- Variants (rsID)
- 6
TTPA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q12.3). Its official name is “alpha tocopherol transfer protein”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs121917850Conflicting interpretationssingle nucleotide variantAtaxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E
- rs121917851Pathogenicsingle nucleotide variantAtaxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E
- rs397515377PathogenicDeletionAtaxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E
- rs397515379PathogenicInsertionAtaxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E
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.