rs1946857788 Rat Genome Database

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Variant: rs1946857788 -  Homo sapiens

RGD ID: 38456483
RS ID: rs1946857788
ClinVar ID: CV935859
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MRE11  
Reference Nucleotide: A
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 11 94,209,563
GRCh38 11 94,476,397
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000011.9:g.94209562del
LRG_85t1:c.552del
NM_001330347.2:c.552del
NC_000011.10:g.94476397del
More... 		10/14/2019 frameshift variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV935859HumanAtaxia Telangiectasia Like Disorder  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorderClinVarPMID:23080121 more ...


.
PMID:23080121   PMID:23912341   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001210830 CLINVAR
dbSNP (RS) rs1946857788 CLINVAR
MedGen C1858391 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR