RGD:597658029 Rat Genome Database

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Variant: RGD:597658029 -  Homo sapiens

RGD ID: 597658029
ClinVar ID: CV3652301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHX30  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 47,887,688
GRCh38 3 47,846,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_014966.4:c.1009C>T
NM_001330990.2:c.1042C>T
NM_138615.3:c.1126C>T
NC_000003.12:g.47846198C>T
More... 		08/05/2024 missense variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3652301Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004976832 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DHX30 CLINVAR
OMIM 616423 CLINVAR