chr22:29121075:TCT> Detail (hg19) (CHEK2)

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

Genome

Assembly	Position
hg19	chr22:29,121,075-29,121,077
hg38	chr22:28,725,087-28,725,089

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.480_482delAGA	NP_001244316.1:p.Glu161del
	NM_145862.2:c.480_482delAGA	NP_665861.1:p.Glu161del
	NM_001005735.1:c.609_611delAGA	NP_001005735.1:p.Glu204del
Ensemble	ENST00000348295.7:c.480_482delAGA	ENST00000348295.7:p.Glu161del
	ENST00000382580.6:c.609_611delAGA	ENST00000382580.6:p.Glu204del
	ENST00000402731.6:c.444+154_444+156delAGA
	ENST00000403642.5:c.320-5604_320-5602delAGA
	ENST00000404276.6:c.480_482delAGA	ENST00000404276.6:p.Glu161del
	ENST00000405598.5:c.480_482delAGA	ENST00000405598.5:p.Glu161del
	ENST00000425190.7:c.-182_-184delAGA
	ENST00000649563.1:c.-71-5602_-71-5604delAGA
	ENST00000650281.1:c.480_482delAGA	ENST00000650281.1:p.Glu161del

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

CHEK2

Type	Database	ID	Link
Gene	MIM	604373	OMIM
	HGNC	16627	HGNC
	Ensembl	ENSG00000183765	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
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	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: hg19
Position: chr22:29,121,075-29,121,077
Variant Type: snv
Reference Allele: TCT
Alternative Allele: -
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): 121368
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6478808252587174E-5

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