chr14:20455971:G>A 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	chr14:20,924,130-20,924,130 View the variant detail on this assembly version.
hg38	chr14:20,455,971-20,455,971

HGVS

APEX1

Type	Transcript	Protein
RefSeq	NM_001244249.1:c.116G>A	NP_001231178.1:p.Gly39Glu
	NM_001641.3:c.116G>A	NP_001632.2:p.Gly39Glu
	NM_080648.2:c.116G>A	NP_542379.1:p.Gly39Glu
	NM_080649.2:c.116G>A	NP_542380.1:p.Gly39Glu
Ensemble	ENST00000216714.8:c.116G>A	ENST00000216714.8:p.Gly39Glu
	ENST00000398030.8:c.116G>A	ENST00000398030.8:p.Gly39Glu
	ENST00000555414.5:c.116G>A	ENST00000555414.5:p.Gly39Glu
	ENST00000557054.1:c.27+299G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
0.085	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.008	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.015	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.011	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.009	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.019	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.001	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.004	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.018	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.023	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.013	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.098	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail

Annotation

Annotations

Descrption	Source	Links
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	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: rs34632023 dbSNP
Genome: hg38
Position: chr14:20,455,971-20,455,971
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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