chr14:20456008:G>C Detail (hg38) (APEX1)

Information

Genome

Assembly Position
hg19 chr14:20,924,167-20,924,167 View the variant detail on this assembly version.
hg38 chr14:20,456,008-20,456,008

HGVS

Type Transcript Protein
RefSeq NM_001244249.1:c.153G>C NP_001231178.1:p.Gln51His
NM_001641.3:c.153G>C NP_001632.2:p.Gln51His
NM_080648.2:c.153G>C NP_542379.1:p.Gln51His
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 107748 OMIM
HGNC 587 HGNC
Ensembl ENSG00000100823 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv223825785 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
0.003 colorectal carcinoma Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared ... BeFree 21037106 Detail
0.006 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
<0.001 endometrial carcinoma Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
<0.001 uterine corpus cancer Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
0.062 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.013 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.030 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
<0.001 Malignant neoplasm of endometrium Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
0.012 colorectal cancer Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared ... BeFree 21037106 Detail
Annotation

Annotations

DescrptionSourceLinks
Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the... 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
chr14:20,456,008-20,456,008
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8632
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)
121242
Allele Counts in All Race (ExAC)
2493
Heterozygous Counts in All Race (ExAC)
2419
Homozygous Counts in All Race (ExAC)
37
Allele Frequency in All Race (ExAC)
0.020562181422279408
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