chr11:108139218:GTGT> Detail (hg19) (ATM)

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

Genome

Assembly	Position
hg19	chr11:108,139,218-108,139,221
hg38	chr11:108,268,491-108,268,494

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.2720_2723delGTGT	NP_000042.3:p.Cys907Ter
	NM_001351834.1:c.2720_2723delGTGT	NP_001338763.1:p.Cys907Ter
Ensemble	ENST00000713844.1:c.2720_2723delGTGT	ENST00000713844.1:p.Cys907Ter
	ENST00000531525.3:c.2720_2723delGTGT	ENST00000531525.3:p.Cys907Ter
	ENST00000601453.3:c.2720_2723delGTGT	ENST00000601453.3:p.Cys907Ter
	ENST00000278616.10:c.2720_2723delGTGT	ENST00000278616.10:p.Cys907Ter
	ENST00000452508.7:c.2720_2723delGTGT	ENST00000452508.7:p.Cys907Ter
	ENST00000675843.1:c.2720_2723delGTGT	ENST00000675843.1:p.Cys907Ter

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

ATM

Type	Database	ID	Link
Gene	MIM	607585	OMIM
	HGNC	795	HGNC
	Ensembl	ENSG00000149311	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM758339	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.709	ataxia telangiectasia	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: -
dbSNP: rs786202695 dbSNP
Genome: hg19
Position: chr11:108,139,218-108,139,221
Variant Type: snv
Reference Allele: GTGT
Alternative Allele: -

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