RGD:402491827 Rat Genome Database

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Variant: RGD:402491827 -  Homo sapiens

RGD ID: 402491827
ClinVar ID: CV2861914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YARS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 33,256,745
GRCh38 1 32,791,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003680.4:c.684+18A>G
LRG_273:g.31889A>G
NG_008408.1:g.31889A>G
NC_000001.11:g.32791144T>C
More... 		02/14/2023 intron variant likely benign CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2861914HumanCharcot-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 RCV003507667 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR