Variant: rs747068278 

    present in Gene: C2orf42;TIA1
    present in Chromosome: 2
    Position on Chromosome: 70212730
    Alleles of this Variant: C/T

rs747068278 in C2orf42;TIA1 gene and Welander Distal Myopathy PMID 28817800 2017 TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

PMID 27282841 2016 Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

PMID 10482271 1999 Genetic linkage of Welander distal myopathy to chromosome 2p13.

PMID 23401021 2013 Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

PMID 23348830 2013 Within the conserved haplotype, we identified a single heterozygous mutation c.1150G>A (p.E384K) in T-cell intracellular antigen-1 (TIA1) in all WDM patients investigated (n = 43).