chr11:94476318:C>G Detail (hg38) (MRE11)

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

Genome

Assembly	Position
hg19	chr11:94,209,484-94,209,484 View the variant detail on this assembly version.
hg38	chr11:94,476,318-94,476,318

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_005591.3:c.630G>C	NP_005582.1:p.Trp210Cys
	NM_005590.3:c.630G>C	NP_005581.2:p.Trp210Cys
	NM_001330347.1:c.630G>C	NP_001317276.1:p.Trp210Cys
Ensemble	ENST00000323929.8:c.630G>C	ENST00000323929.8:p.Trp210Cys
	ENST00000323977.7:c.630G>C	ENST00000323977.7:p.Trp210Cys
	ENST00000393241.8:c.630G>C	ENST00000393241.8:p.Trp210Cys
	ENST00000407439.7:c.639G>C	ENST00000407439.7:p.Trp213Cys
	ENST00000540013.5:c.630G>C	ENST00000540013.5:p.Trp210Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

MRE11

Type	Database	ID	Link
Gene	MIM	600814	OMIM
	HGNC	7230	HGNC
	Ensembl	ENSG00000020922	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
Pathogenic Likely pathogenic	2024-03-17	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia-like disorder 1	germline unknown	Detail
Pathogenic	2016-06-30	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	Ataxia-telangiectasia-like disorder	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) AND not provided	ClinVar	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: rs137852763 dbSNP
Genome: hg38
Position: chr11:94,476,318-94,476,318
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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