chr1:226363128:T>G Detail (hg38) (PARP1)

Information

Genome

Assembly Position
hg19 chr1:226,550,829-226,550,829 View the variant detail on this assembly version.
hg38 chr1:226,363,128-226,363,128

HGVS

Type Transcript Protein
RefSeq NM_001618.3:c.2819A>C NP_001609.2:p.Lys940Thr
Ensemble ENST00000366794.10:c.2819A>C ENST00000366794.10:p.Lys940Thr
ENST00000677203.1:c.2690A>C ENST00000677203.1:p.Lys897Thr
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 173870 OMIM
HGNC 270 HGNC
Ensembl ENSG00000143799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv304799131 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
0.011 colorectal cancer We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.003 Malignant tumor of colon We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
<0.001 Malignant tumor of colon We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.003 colon carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.033 colorectal cancer We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
<0.001 colon carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
<0.001 Rectal Carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.003 colorectal carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
<0.001 Rectal Carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.014 colorectal carcinoma We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Ar... BeFree 18006925 Detail
0.010 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.030 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.058 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.013 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.006 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.062 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
Annotation

Annotations

DescrptionSourceLinks
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colo... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... 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
chr1:226,363,128-226,363,128
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121400
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237232289950576E-6
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