chr11:94490846:G>A Detail (hg38) (MRE11)

Information

Genome

Assembly Position
hg19 chr11:94,224,012-94,224,012 View the variant detail on this assembly version.
hg38 chr11:94,490,846-94,490,846

HGVS

Type Transcript Protein
RefSeq NM_005591.3:c.140C>T NP_005582.1:p.Ala47Val
NM_005590.3:c.140C>T NP_005581.2:p.Ala47Val
NM_001330347.1:c.140C>T NP_001317276.1:p.Ala47Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
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 tgv43651720 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic ataxia-telangiectasia-like disorder germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-02-15 no assertion criteria provided Ataxia-telangiectasia-like disorder 1 germline Detail
Uncertain significance 2019-02-15 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2021-07-14 criteria provided, single submitter Ataxia-telangiectasia-like disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Ataxia-telangiectasia-like disorder NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Ataxia-telangiectasia-like disorder 1 ClinVar Detail
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Ataxia-telangiectasia-like disorder 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
rs730880378 dbSNP
Genome
hg38
Position
chr11:94,490,846-94,490,846
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
39.59
Standard deviation of sample read depth (HGVD)
26.52
Number of reference allele (HGVD)
2395
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1736227045075126E-4
Gene Symbol (HGVD)
MRE11A
Genome browser