chr14:20457272:G>A Detail (hg38) (APEX1, LOC124958010)

Information

Genome

Assembly Position
hg19 chr14:20,925,431-20,925,431 View the variant detail on this assembly version.
hg38 chr14:20,457,272-20,457,272

HGVS

Type Transcript Protein
RefSeq NM_001244249.1:c.721G>A NP_001231178.1:p.Gly241Arg
NM_001641.3:c.721G>A NP_001632.2:p.Gly241Arg
NM_080648.2:c.721G>A NP_542379.1:p.Gly241Arg
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 Benign
Review star
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 tgv386419127 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-12-31 criteria provided, single submitter not provided germline Detail
Benign 2019-05-01 criteria provided, single submitter APEX1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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
<0.001 Malignant neoplasm of endometrium Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001641.4(APEX1):c.721G>A (p.Gly241Arg) AND not provided ClinVar Detail
NM_001641.4(APEX1):c.721G>A (p.Gly241Arg) AND APEX1-related disorder ClinVar 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
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... 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
rs33956927 dbSNP
Genome
hg38
Position
chr14:20,457,272-20,457,272
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121410
Allele Counts in All Race (ExAC)
201
Heterozygous Counts in All Race (ExAC)
195
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
0.0016555473190017296
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