RGD:401946287 Rat Genome Database

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Variant: RGD:401946287 -  Homo sapiens

RGD ID: 401946287
ClinVar ID: CV2832988
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MRE11  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 11 94,204,896
GRCh38 11 94,471,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_85p1:p.Glu231Asnfs
NP_005582.1:p.Glu231Asnfs
NP_001317276.1:p.Glu231fs
NP_005581.2:p.Glu231fs
More... 		06/03/2023 frameshift variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2832988Humanataxia-telangiectasia-like disorder-1  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV003470200 CLINVAR
MedGen C4012790 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR