RGD:597654607 Rat Genome Database

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Variant: RGD:597654607 -  Homo sapiens

RGD ID: 597654607
ClinVar ID: CV3560835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRE11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 94,211,994
GRCh38 11 94,478,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_85t1:c.451A>G
NM_001330347.2:c.451A>G
NM_005590.4:c.451A>G
NM_005591.4:c.451A>G
More... 		09/30/2024 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3560835HumanHereditary Neoplastic Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary cancer-predisposing syndromeClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004944417 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
SNOMED CT 699346009 CLINVAR