chr3:14187449:G>T Detail (hg19) (XPC, TMEM43)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:14,187,449-14,187,449 |
| hg38 | chr3:14,145,949-14,145,949 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004628.4:c.2815C>A | NP_004619.3:p.Gln939Lys |
| Ensemble | ENST00000285021.12:c.2815C>A | ENST00000285021.12:p.Gln939Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.606 |
| ToMMo:0.589 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.645 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-08-27 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | arrhythmogenic right ventricular cardiomyopathy |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | xeroderma pigmentosum |
germline
|
Detail |
|
Benign
|
2021-12-05 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group C |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.085 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.011 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.009 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.019 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.001 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.100 | Malignant neoplasm of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.058 | colorectal cancer | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.003 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.013 | Carcinoma of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.005 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.007 | colorectal cancer | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.003 | colorectal carcinoma | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.003 | colorectal carcinoma | The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphism... | BeFree | 20649433 | Detail |
| <0.001 | colorectal carcinoma | We determined the risk of colorectal cancer in association with the four polymor... | BeFree | 17363013 | Detail |
| 0.020 | Carcinoma of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.008 | liver carcinoma | In this study, we investigated whether six polymorphisms (including rs25487, rs8... | BeFree | 25337275 | Detail |
| 0.008 | colorectal cancer | We determined the risk of colorectal cancer in association with the four polymor... | BeFree | 17363013 | Detail |
| 0.072 | Malignant neoplasm of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.010 | colorectal carcinoma | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.002 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.007 | prostate carcinoma | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.047 | Malignant neoplasm of prostate | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.006 | Malignant neoplasm of prostate | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.002 | prostate carcinoma | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.002 | Carcinoma of bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.006 | Carcinoma of bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.002 | Carcinoma of bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.012 | Malignant neoplasm of urinary bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.002 | Malignant neoplasm of urinary bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.569 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | Several polymorphisms (Lys(939)Gln, PAT+/- and Ala(499)Val) in the DNA nuclear e... | BeFree | 18771913 | Detail |
| 0.003 | adenoma | Smoking was related to adenoma risk and XPC polymorphisms (R492H, A499V, K939Q) ... | BeFree | 16492920 | Detail |
| 0.007 | colorectal cancer | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a... | BeFree | 24385304 | Detail |
| 0.003 | colorectal carcinoma | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a... | BeFree | 24385304 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Numerous studies have investigated the association between three polymorphisms (... | BeFree | 23918308 | Detail |
| <0.001 | gallbladder adenocarcinoma | Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their c... | BeFree | 21113018 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | This meta-analysis including 13 case-control studies evaluated the associations ... | BeFree | 23381646 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be ass... | BeFree | 24338715 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | The overall genotype and allelotype distributions of XPC intron 9 PAT(+/-) and e... | BeFree | 17653764 | Detail |
| 0.007 | colorectal cancer | XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evid... | BeFree | 24947936 | Detail |
| 0.569 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | To investigate the association between two Xeroderma pigmentosum group C polymor... | BeFree | 19924443 | Detail |
| <0.001 | Cutaneous Melanoma | Quantitative assessment of the association between XPC Lys939Gln polymorphism an... | BeFree | 24277375 | Detail |
| 0.006 | Carcinoma of bladder | Recent studies have demonstrated linkage disequilibrium between three polymorphi... | BeFree | 15886698 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | The polymorphism Lys939Gln in xeroderma pigmentosum complementation group C (XPC... | BeFree | 23269608 | Detail |
| 0.014 | melanoma | Quantitative assessment of the association between XPC Lys939Gln polymorphism an... | BeFree | 24277375 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | Recent studies have demonstrated linkage disequilibrium between three polymorphi... | BeFree | 15886698 | Detail |
| <0.001 | Epithelial ovarian cancer | Our results indicated that the XPC Lys939Gln polymorphism may correlate with cli... | BeFree | 23621265 | Detail |
| 0.006 | Carcinoma of bladder | The polymorphism Lys939Gln in xeroderma pigmentosum complementation group C (XPC... | BeFree | 23269608 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | Numerous epidemiological studies have been conducted to explore the association ... | BeFree | 23819639 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Haplotype analysis revealed that variant genotypes C of XPC Lys939Gln and + of P... | BeFree | 19924443 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | These analyses suggest that XPC gene PAT+/-polymorphism, but not rs2228001, like... | BeFree | 24093803 | Detail |
| 0.006 | Carcinoma of bladder | Numerous epidemiological studies have been conducted to explore the association ... | BeFree | 23819639 | Detail |
| 0.003 | colorectal carcinoma | XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evid... | BeFree | 24947936 | Detail |
| 0.005 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| 0.018 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| <0.001 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.098 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| 0.002 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| 0.026 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.023 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND not specified | ClinVar | Detail |
| NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
| NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND Xeroderma pigmentosum | ClinVar | Detail |
| NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND Xeroderma pigmentosum, group C | ClinVar | Detail |
| NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND not provided | ClinVar | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibi... | DisGeNET | Detail |
| We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs... | DisGeNET | Detail |
| We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| Several polymorphisms (Lys(939)Gln, PAT+/- and Ala(499)Val) in the DNA nuclear excision repair gene ... | DisGeNET | Detail |
| Smoking was related to adenoma risk and XPC polymorphisms (R492H, A499V, K939Q) modified these effec... | DisGeNET | Detail |
| XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of ca... | DisGeNET | Detail |
| XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of ca... | DisGeNET | Detail |
| Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val... | DisGeNET | Detail |
| Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with the ... | DisGeNET | Detail |
| This meta-analysis including 13 case-control studies evaluated the associations between three common... | DisGeNET | Detail |
| This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be associated with an incr... | DisGeNET | Detail |
| The overall genotype and allelotype distributions of XPC intron 9 PAT(+/-) and exon 15 Lys939Gln and... | DisGeNET | Detail |
| XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evidence from a meta-ana... | DisGeNET | Detail |
| To investigate the association between two Xeroderma pigmentosum group C polymorphism (XPC Lys939Gln... | DisGeNET | Detail |
| Quantitative assessment of the association between XPC Lys939Gln polymorphism and cutaneous melanoma... | DisGeNET | Detail |
| Recent studies have demonstrated linkage disequilibrium between three polymorphisms in the XPC gene ... | DisGeNET | Detail |
| The polymorphism Lys939Gln in xeroderma pigmentosum complementation group C (XPC) gene has been repo... | DisGeNET | Detail |
| Quantitative assessment of the association between XPC Lys939Gln polymorphism and cutaneous melanoma... | DisGeNET | Detail |
| Recent studies have demonstrated linkage disequilibrium between three polymorphisms in the XPC gene ... | DisGeNET | Detail |
| Our results indicated that the XPC Lys939Gln polymorphism may correlate with clinical outcome of pat... | DisGeNET | Detail |
| The polymorphism Lys939Gln in xeroderma pigmentosum complementation group C (XPC) gene has been repo... | DisGeNET | Detail |
| Numerous epidemiological studies have been conducted to explore the association between the Lys939Gl... | DisGeNET | Detail |
| Haplotype analysis revealed that variant genotypes C of XPC Lys939Gln and + of PAT, C+ were signific... | DisGeNET | Detail |
| These analyses suggest that XPC gene PAT+/-polymorphism, but not rs2228001, likely contributes to su... | DisGeNET | Detail |
| Numerous epidemiological studies have been conducted to explore the association between the Lys939Gl... | DisGeNET | Detail |
| XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evidence from a meta-ana... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2228001 dbSNP
- Genome
- hg19
- Position
- chr3:14,187,449-14,187,449
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 97.85
- Standard deviation of sample read depth (HGVD)
- 43.55
- Number of reference allele (HGVD)
- 954
- Number of alternative allele (HGVD)
- 1465
- Allele Frequency (HGVD)
- 0.6056221579164944
- Gene Symbol (HGVD)
- XPC
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2228001
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5894
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9878
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8608
- East Asian Allele Counts (ExAC)
- 5551
- East Asian Heterozygous Counts (ExAC)
- 1925
- East Asian Homozygous Counts (ExAC)
- 1813
- East Asian Allele Frequency (ExAC)
- 0.6448652416356877
- Chromosome Counts in All Race (ExAC)
- 120198
- Allele Counts in All Race (ExAC)
- 76030
- Heterozygous Counts in All Race (ExAC)
- 27484
- Homozygous Counts in All Race (ExAC)
- 24273
- Allele Frequency in All Race (ExAC)
- 0.6325396429225112
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