Variant: rs121913016 

    present in Gene: ERCC2
    present in Chromosome: 19
    Position on Chromosome: 45357368
    Alleles of this Variant: G/C

rs121913016 in ERCC2 gene and Photosensitive Trichothiodystrophy PMID 9238033 1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PMID 9758621 1998 Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

PMID 11242112 2001 A temperature-sensitive disorder in basal transcription and DNA repair in humans.

PMID 7920640 1994 Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

PMID 9195225 1997 DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

PMID 8571952 1996 Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

rs121913016 in ERCC2 gene and Xeroderma Pigmentosum, Complementation Group D PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 7585650 1995 Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

PMID 15494306 2004 Selective regulation of vitamin D receptor-responsive genes by TFIIH.

PMID 7825573 1995 Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

PMID 7849702 1994 In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.

PMID 9101292 1997 Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

PMID 11709541 2001 Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.