RGD:597726716 Rat Genome Database

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Variant: RGD:597726716 -  Homo sapiens

RGD ID: 597726716
ClinVar ID: CV3573084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 145,799,633
GRCh38 3 146,081,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000935.3:c.1250T>C
NM_182943.3:c.1250T>C
NG_009251.1:g.84650T>C
NC_000003.12:g.146081846A>G
More... 		12/07/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3573084Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004962279 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR