chr14:20457260:C>T Detail (hg38) (APEX1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr14:20,925,419-20,925,419 View the variant detail on this assembly version.
hg38	chr14:20,457,260-20,457,260

HGVS

APEX1

Type	Transcript	Protein
RefSeq	NM_001244249.1:c.709C>T	NP_001231178.1:p.Arg237Cys
	NM_001641.3:c.709C>T	NP_001632.2:p.Arg237Cys
	NM_080648.2:c.709C>T	NP_542379.1:p.Arg237Cys
	NM_080649.2:c.709C>T	NP_542380.1:p.Arg237Cys
Ensemble	ENST00000216714.8:c.709C>T	ENST00000216714.8:p.Arg237Cys
	ENST00000398030.8:c.709C>T	ENST00000398030.8:p.Arg237Cys
	ENST00000555414.5:c.709C>T	ENST00000555414.5:p.Arg237Cys
	ENST00000557054.1:c.*120C>T

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

APEX1

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	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

Descrption	Source	Links
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: -
Genome: hg38
Position: chr14:20,457,260-20,457,260
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 121408
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): 8.236689509752241E-6

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