chr19:45407183:C>T Detail (hg38) (POLR1G)

Information

Genome

Assembly Position
hg19 chr19:45,910,441-45,910,441 View the variant detail on this assembly version.
hg38 chr19:45,407,183-45,407,183

HGVS

Type Transcript Protein
RefSeq NM_012099.1:c.112C>T NP_036231.1:p.Pro38Ser
NM_001297590.1:c.118C>T NP_001284519.1:p.Pro40Ser
Ensemble ENST00000309424.8:c.112C>T ENST00000309424.8:p.Pro38Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 107325 OMIM
HGNC 24219 HGNC
Ensembl ENSG00000117877 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv405874955 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.134 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.002 Colorectal cancer metastatic We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... BeFree 23547850 Detail
0.003 Colorectal cancer metastatic We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... BeFree 23547850 Detail
0.156 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.005 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.219 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
<0.001 Non-small cell lung carcinoma To summarize published data on the association between NER genes and responses t... BeFree 21075476 Detail
0.048 colorectal cancer The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer pat... BeFree 25339033 Detail
0.005 squamous cell carcinoma Subgroup analysis revealed that ERCC1 118 C/T or T/T was associated with increas... BeFree 21676483 Detail
0.008 Carcinoma of lung Association of ERCC1-C118T and -C8092A polymorphisms with lung cancer risk and s... BeFree 23727606 Detail
0.009 colorectal carcinoma The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer pat... BeFree 25339033 Detail
0.001 stage, non-small cell lung cancer A C118T polymorphism of ERCC1 and response to cisplatin chemotherapy in patients... BeFree 22102173 Detail
0.156 Non-small cell lung carcinoma We found no evidence to support the use of ERCC1 C118T/C8092A polymorphisms as p... BeFree 21827803 Detail
<0.001 neuropathy Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more... BeFree 20979931 Detail
0.067 Malignant neoplasm of lung Association of ERCC1-C118T and -C8092A polymorphisms with lung cancer risk and s... BeFree 23727606 Detail
<0.001 neuropathy Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more... BeFree 20979931 Detail
0.156 Non-small cell lung carcinoma These findings suggest that ERCC1 C118T polymorphisms may serve as a biomarker f... BeFree 23727606 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... DisGeNET Detail
We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
To summarize published data on the association between NER genes and responses to platinum-based che... DisGeNET Detail
The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer patients receiving oxal... DisGeNET Detail
Subgroup analysis revealed that ERCC1 118 C/T or T/T was associated with increased survival in elder... DisGeNET Detail
Association of ERCC1-C118T and -C8092A polymorphisms with lung cancer risk and survival of advanced-... DisGeNET Detail
The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer patients receiving oxal... DisGeNET Detail
A C118T polymorphism of ERCC1 and response to cisplatin chemotherapy in patients with late-stage non... DisGeNET Detail
We found no evidence to support the use of ERCC1 C118T/C8092A polymorphisms as prognostic predictors... DisGeNET Detail
Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to... DisGeNET Detail
Association of ERCC1-C118T and -C8092A polymorphisms with lung cancer risk and survival of advanced-... DisGeNET Detail
Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to... DisGeNET Detail
These findings suggest that ERCC1 C118T polymorphisms may serve as a biomarker for lung cancer risk ... 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
-
Genome
hg38
Position
chr19:45,407,183-45,407,183
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121318
Allele Counts in All Race (ExAC)
110
Heterozygous Counts in All Race (ExAC)
110
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.067079905702369E-4
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