Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769146546
rs769146546
ERCC2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913026
rs121913026
ERCC2
0.050 GeneticVariation BEFREE Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in ERCC2. 31282071

2019
dbSNP: rs121913026
rs121913026
ERCC2
0.050 GeneticVariation BEFREE One TTD patient was homozygous for the known TTD-causing mutation p.R722W (c.2195C>T). 23800062

2013
dbSNP: rs121913026
rs121913026
ERCC2
0.050 GeneticVariation BEFREE Our genotype-phenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations. 23039039

2012
dbSNP: rs121913026
rs121913026
ERCC2
0.050 GeneticVariation BEFREE Patient TTD24PV was compound heterozygous for a typical TTD allele (c.2164C>T</span>, p.Arg722Trp) and for a new XPD allele with a mutation that partially affects intron 10 splicing, resulting in both mutated and normal XPD transcripts (that together represent 15% of the total XPD mRNA). 19085937

2009
dbSNP: rs121913026
rs121913026
ERCC2
0.050 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs875989846
rs875989846
GTF2E2
0.010 GeneticVariation BEFREE Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). 26996949

2016
dbSNP: rs875989847
rs875989847
GTF2E2
0.010 GeneticVariation BEFREE Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). 26996949

2016
dbSNP: rs121913020
rs121913020
ERCC2
0.010 GeneticVariation BEFREE Two patients were compound heterozygous for a TTD-causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD and XP/CS complex phenotypes, respectively. 23800062

2013
dbSNP: rs121913045
rs121913045
ERCC3
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046

1999
dbSNP: rs121913046
rs121913046
ERCC3
0.010 GeneticVariation BEFREE Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD. 10332046

1999
dbSNP: rs747619345
rs747619345
ERCC2
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046

1999
dbSNP: rs750323550
rs750323550
GTF2H4
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046

1999
dbSNP: rs900744746
rs900744746
GTF2H3
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046

1999
dbSNP: rs121913016
rs121913016
ERCC2
0.010 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs121913021
rs121913021
ERCC2
0.010 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs376556895
rs376556895
ERCC2
0.010 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs41556519
rs41556519
ERCC2
0.010 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs762141272
rs762141272
ERCC2
0.010 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996