chr11:94435901:T>C Detail (hg38) (MRE11)

Information

Genome

Assembly Position
hg19 chr11:94,169,067-94,169,067 View the variant detail on this assembly version.
hg38 chr11:94,435,901-94,435,901

HGVS

Type Transcript Protein
RefSeq NM_005591.3:c.1927-2A>G
NM_005590.3:c.1843-2A>G
NM_001330347.1:c.1924-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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
Likely pathogenic 2021-06-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-03-10 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia-like disorder 1 unknown Detail
Likely pathogenic 2023-03-18 criteria provided, single submitter Ataxia-telangiectasia-like disorder germline 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.1927-2A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.1927-2A>G AND Ataxia-telangiectasia-like disorder 1 ClinVar Detail
NM_005591.4(MRE11):c.1927-2A>G AND Ataxia-telangiectasia-like disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587781822 dbSNP
Genome
hg38
Position
chr11:94,435,901-94,435,901
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser