Variant: rs121912304 

    present in Gene: DKC1
    present in Chromosome: X
    Position on Chromosome: 154765505
    Alleles of this Variant: C/T

rs121912304 in DKC1 gene and Dyskeratosis Congenita PMID 11491307 2001 One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PMID 14648217 2003 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

rs121912304 in DKC1 gene and X-Linked Dyskeratosis Congenita PMID 24914498 2014 Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1.

PMID 21610750 2011 Clinical utility gene card for: dyskeratosis congenita.

PMID 19734544 2009 Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

PMID 12437656 2002 A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.