rs863224734 Rat Genome Database

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Variant: rs863224734 -  Homo sapiens

RGD ID: 10406033
RS ID: rs863224734
ClinVar ID: CV212961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRE11  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 94,197,269
GRCh38 11 94,464,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Trait Synonyms
LRG_85t1:c.1225+10T>G
LRG_85:g.34772T>G
NG_007261.1:g.34772T>G
NC_000011.10:g.94464103A>C
More... 		01/31/2024 intron variant likely pathogenic|likely benign|uncertain significance infancy
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV212961HumanAtaxia Telangiectasia Like Disorder  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorderClinVarPMID:28492532
CV212961Humanataxia-telangiectasia-like disorder-1  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1ClinVarPMID:28492532
Gene Symbol:MRE11
Accession:NM_005591
Location:INTRON

Gene Symbol:MRE11
Accession:XM_017017772
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005590
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426967
Location:INTRON

Gene Symbol:MRE11
Accession:XM_011542837
Location:INTRON

Gene Symbol:MRE11
Accession:XM_005274008
Location:INTRON

Gene Symbol:MRE11
Accession:XM_006718842
Location:INTRON

Gene Symbol:MRE11
Accession:NM_001330347
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426968
Location:INTRON

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

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

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

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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000200713 CLINVAR
  RCV000281306 CLINVAR
dbSNP (RS) rs863224734 CLINVAR
MedGen C1858391 CLINVAR
  C4012790 CLINVAR
NCBI Gene MRE11A CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR