Variant: rs201540674 

    present in Gene: RTEL1-TNFRSF6B;TNFRSF6B;RTEL1
    present in Chromosome: 20
    Position on Chromosome: 63695619
    Alleles of this Variant: G/A

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 25099625 2014 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

PMID 25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

PMID 25047097 2015 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and Dyskeratosis Congenita PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and Idiopathic Pulmonary Fibrosis PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 25047097 2015 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 25099625 2014 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.