RGD:405111758 Rat Genome Database

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Variant: RGD:405111758 -  Homo sapiens

RGD ID: 405111758
ClinVar ID: CV3065980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YARS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,245,141
GRCh38 1 32,779,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003680.4:c.1335-17G>C
LRG_273:g.43493G>C
NG_008408.1:g.43493G>C
NC_000001.11:g.32779540C>G
More... 		12/13/2023 intron variant likely benign CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3065980HumanCharcot-Marie-Tooth disease dominant intermediate C  IAGP 8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate CClinVarPMID:28492532
Gene Symbol:YARS1
Accession:NM_003680
Location:INTRON

Gene Symbol:YARS1
Accession:XM_011542347
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003615596 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR