Variant: rs121917849 

    present in Gene: TTPA
    present in Chromosome: 8
    Position on Chromosome: 63072990
    Alleles of this Variant: A/C

rs121917849 in TTPA gene and Ataxia with vitamin E deficiency PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 15300460 2004 Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

PMID 15065857 2004 Molecular determinants of heritable vitamin E deficiency.

PMID 9463307 1998 Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

PMID 7566022 1995 Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

PMID 8602747 1996 Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.