RGD:405048010 Rat Genome Database

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Variant: RGD:405048010 -  Homo sapiens

RGD ID: 405048010
ClinVar ID: CV2856789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRE11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 94,200,961
GRCh38 11 94,467,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001330347.2:c.1098+18A>G
NM_005590.4:c.1098+18A>G
NM_005591.4:c.1098+18A>G
LRG_85:g.31080A>G
More... 		12/26/2023 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2856789HumanAtaxia Telangiectasia Like Disorder  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorderClinVarPMID:28492532
Gene Symbol:MRE11
Accession:XM_005274008
Location:INTRON

Gene Symbol:MRE11
Accession:XM_006718842
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005590
Location:INTRON

Gene Symbol:MRE11
Accession:XM_011542837
Location:INTRON

Gene Symbol:MRE11
Accession:XM_017017772
Location:INTRON

Gene Symbol:MRE11
Accession:NM_001330347
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426968
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005591
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426967
Location:INTRON

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

Gene Symbol:MRE11
Accession:XR_007062484
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 RCV003592588 CLINVAR
MedGen C1858391 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR