chr11:108098392:A>G 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	chr11:108,098,392-108,098,392
hg38	chr11:108,227,665-108,227,665 View the variant detail on this assembly version.

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.41A>G	NP_000042.3:p.Gln14Arg
	NM_001351834.1:c.41A>G	NP_001338763.1:p.Gln14Arg
Ensemble	ENST00000278616.10:c.41A>G	ENST00000278616.10:p.Gln14Arg
	ENST00000452508.7:c.41A>G	ENST00000452508.7:p.Gln14Arg
	ENST00000526567.5:c.41A>G	ENST00000526567.5:p.Gln14Arg
	ENST00000530958.5:c.41A>G	ENST00000530958.5:p.Gln14Arg
	ENST00000531525.3:c.41A>G	ENST00000531525.3:p.Gln14Arg
	ENST00000532931.6:c.41A>G	ENST00000532931.6:p.Gln14Arg
	ENST00000601453.3:c.41A>G	ENST00000601453.3:p.Gln14Arg
	ENST00000639240.1:c.41A>G	ENST00000639240.1:p.Gln14Arg
	ENST00000639953.1:c.41A>G	ENST00000639953.1:p.Gln14Arg
	ENST00000640388.1:c.41A>G	ENST00000640388.1:p.Gln14Arg
	ENST00000675843.1:c.41A>G	ENST00000675843.1:p.Gln14Arg
	ENST00000682465.1:c.41A>G	ENST00000682465.1:p.Gln14Arg
	ENST00000683150.1:c.41A>G	ENST00000683150.1:p.Gln14Arg
	ENST00000683468.1:c.41A>G	ENST00000683468.1:p.Gln14Arg
	ENST00000683914.2:c.41A>G	ENST00000683914.2:p.Gln14Arg
	ENST00000684029.1:c.41A>G	ENST00000684029.1:p.Gln14Arg
	ENST00000713844.1:c.41A>G	ENST00000713844.1:p.Gln14Arg
	ENST00000713845.1:c.41A>G	ENST00000713845.1:p.Gln14Arg
	ENST00000713846.1:c.41A>G	ENST00000713846.1:p.Gln14Arg
	ENST00000713847.1:c.41A>G	ENST00000713847.1:p.Gln14Arg

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	1
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	Uncertain significance
Review star
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-10-13	criteria provided, single submitter	Ataxia-telangiectasia syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.41A>G (p.Gln14Arg) AND Ataxia-telangiectasia syndrome	ClinVar	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: rs749776879 dbSNP
Genome: hg19
Position: chr11:108,098,392-108,098,392
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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): 121382
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): 8.238453806989504E-6

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