chr11:94189489:C>T Detail (hg19) (MRE11)

Information

Genome

Assembly Position
hg19 chr11:94,189,489-94,189,489
hg38 chr11:94,456,323-94,456,323 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005590.3:c.1516G>A NP_005581.2:p.Glu506Lys
NM_005591.3:c.1516G>A NP_005582.1:p.Glu506Lys
NM_001330347.1:c.1516G>A NP_001317276.1:p.Glu506Lys
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
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
Uncertain significance 2023-11-30 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-09-08 criteria provided, single submitter Ataxia-telangiectasia-like disorder 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys) AND Ataxia-telangiectasia-like disorder 1 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
rs587781384 dbSNP
Genome
hg19
Position
chr11:94,189,489-94,189,489
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser