TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. 18979121 2008