Variant: rs121918544 

    present in Gene: TINF2
    present in Chromosome: 14
    Position on Chromosome: 24240635
    Alleles of this Variant: C/T

rs121918544 in TINF2 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

PMID 18252230 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

rs121918544 in TINF2 gene and REVESZ SYNDROME (disorder) PMID 18252230 2008 Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation.