RGD:597631235 Rat Genome Database

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Variant: RGD:597631235 -  Homo sapiens

RGD ID: 597631235
ClinVar ID: CV3630637
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268603  YARS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 33,276,628
GRCh38 1 32,811,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_273t1:c.88A>G
NM_003680.4:c.88A>G
LRG_273:g.12006A>G
NG_008408.1:g.12006A>G
More... 		09/18/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3630637Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004967608 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR