RGD:156449635 Rat Genome Database

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Variant: RGD:156449635 -  Homo sapiens

RGD ID: 156449635
ClinVar ID: CV1941903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRE11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 94,223,987
GRCh38 11 94,490,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001330347.2:c.153+12T>C
NM_005590.4:c.153+12T>C
NM_005591.4:c.153+12T>C
LRG_85:g.8054T>C
More... 		08/30/2022 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1941903HumanAtaxia Telangiectasia Like Disorder  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorderClinVarPMID:28492532
Gene Symbol:MRE11
Accession:NM_001330347
Location:INTRON

Gene Symbol:MRE11
Accession:XM_011542837
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426967
Location:INTRON

Gene Symbol:MRE11
Accession:XM_017017772
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005590
Location:INTRON

Gene Symbol:MRE11
Accession:XM_005274008
Location:INTRON

Gene Symbol:MRE11
Accession:XM_006718842
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005591
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426968
Location:INTRON

Gene Symbol:MRE11
Accession:XR_007062484
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_947828
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062482
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062483
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003121761 CLINVAR
MedGen C1858391 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR