RGD:597658250 Rat Genome Database

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Variant: RGD:597658250 -  Homo sapiens

RGD ID: 597658250
ClinVar ID: CV3652514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,966,745
GRCh38 5 141,587,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1117t1:c.137T>G
LRG_1117t2:c.164T>G
NM_001079812.3:c.137T>G
NM_001314007.2:c.164T>G
More... 		12/04/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3652514Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004976876 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 602121 CLINVAR