chr22:29121016:G>C 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	chr22:29,121,016-29,121,016
hg38	chr22:28,725,028-28,725,028 View the variant detail on this assembly version.

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.541C>G	NP_001244316.1:p.Arg181Gly
	NM_145862.2:c.541C>G	NP_665861.1:p.Arg181Gly
	NM_001005735.1:c.670C>G	NP_001005735.1:p.Arg224Gly
Ensemble	ENST00000348295.7:c.541C>G	ENST00000348295.7:p.Arg181Gly
	ENST00000382580.6:c.670C>G	ENST00000382580.6:p.Arg224Gly
	ENST00000402731.6:c.445-105C>G
	ENST00000403642.5:c.320-5543C>G
	ENST00000404276.6:c.541C>G	ENST00000404276.6:p.Arg181Gly
	ENST00000405598.5:c.541C>G	ENST00000405598.5:p.Arg181Gly
	ENST00000425190.7:c.-123C>G
	ENST00000649563.1:c.-71-5543C>G
	ENST00000650281.1:c.541C>G	ENST00000650281.1:p.Arg181Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-09-15	criteria provided, single submitter	not provided	germline	Detail

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
0.138	Malignant neoplasm of prostate	Mutations in CHEK2 associated with prostate cancer risk.	UNIPROT	12533788	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations in CHEK2 associated with prostate cancer risk.	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: rs137853010 dbSNP
Genome: hg19
Position: chr22:29,121,016-29,121,016
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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