|
rs1283214655
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs149226993
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.
|
1372103 |
1992 |
|
rs121434570
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
|
7951246 |
1994 |
|
rs776705174
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
|
7920640 |
1994 |
|
rs1200172747
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
|
9671271 |
1998 |
|
rs1554701103
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
|
9671271 |
1998 |
|
rs752088918
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
|
11121128 |
2000 |
|
rs121913023
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome.
|
11443545 |
2001 |
|
rs121913024
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome.
|
11443545 |
2001 |
|
rs1232856265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome.
|
11443545 |
2001 |
|
rs1554788393
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome.
|
11443545 |
2001 |
|
rs1192077068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we evaluated the influence of four polymorphisms of nucleotide excision repair (NER) genes [xeroderma pigmentosum-C (XPC)-PAT +/-, xeroderma pigmentosum-A (XPA) 5' non-coding region-A23G, XPD-exon 23 A35931C Lys751Gln, xeroderma pigmentosum-D (XPD)-exon 10 G23591A Asp312Asn] and that of glutathione S-transferase mu1 (GSTM1-active or -null) on benzo[a]pyrene diol epoxide (B[a]PDE)-DNA adduct levels from the lympho-monocyte fraction (LMF) of highly PAH benzo[a]pyrene (B[a]P)-exposed Polish coke oven workers (n = 67, 67% current smokers) with individual urinary post-shift excretion of 1-pyrenol exceeding the proposed biological exposure index (BEI) (2.28 micromol/mol creatinine).
|
15471894 |
2005 |
|
rs374117852
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
rs752088918
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
rs754532049
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
rs755825264
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
rs13181
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped.
|
16880786 |
2006 |
|
rs25487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped.
|
16880786 |
2006 |
|
rs759412116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped.
|
16880786 |
2006 |
|
rs374117852
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
|
17079196 |
2007 |
|
rs752088918
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
|
17079196 |
2007 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |
|
rs552453137
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |
|
rs770998368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |