RGD:597658244 Rat Genome Database

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Variant: RGD:597658244 -  Homo sapiens

RGD ID: 597658244
ClinVar ID: CV3652513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,953,262
GRCh38 5 141,573,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1117t1:c.2128C>T
LRG_1117t2:c.2155C>T
NM_001079812.3:c.2128C>T
NM_001314007.2:c.2155C>T
More... 		11/14/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3652513Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004976875 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 602121 CLINVAR