RGD:596939981 Rat Genome Database

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Variant: RGD:596939981 -  Homo sapiens

RGD ID: 596939981
ClinVar ID: CV3543312
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHOH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 40,245,251
GRCh38 4 40,243,631
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000004.12:g.40243631G>A
NC_000004.11:g.40245251G>A
LRG_736p1:p.Cys82Tyr
NP_001265288.1:p.Cys82Tyr
More... 		12/06/2024 missense variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3543312Humanimmunodeficiency 129  IAGP 8554872ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4ClinVarPMID:38775840


.
PMID:38775840  



Database
Acc Id
Source(s)
ClinVar RCV004799654 CLINVAR
MedGen C4749042 CLINVAR
NCBI Gene RHOH CLINVAR
OMIM 602037 CLINVAR
  618307 CLINVAR
OMIM Allele 602037.0002 CLINVAR