Variant: rs121918661 

    present in Gene: TERT
    present in Chromosome: 5
    Position on Chromosome: 1294282
    Alleles of this Variant: C/T

rs121918661 in TERT gene and Aplastic Anemia PMID 16627250 2006 Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.

PMID 19760749 2009 Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

PMID 15885610 2005 Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PMID 16990594 2007 Functional characterization of natural telomerase mutations found in patients with hematologic disorders.

rs121918661 in TERT gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 PMID 15814878 2005 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

PMID 17460043 2007 Adult-onset pulmonary fibrosis caused by mutations in telomerase.

PMID 21483807 2011 Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

PMID 21436073 2011 Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

PMID 22512499 2012 Pulmonary fibrosis, bone marrow failure, and telomerase mutation.