rs376765281 Rat Genome Database

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Variant: rs376765281 -  Homo sapiens

RGD ID: 127289975
RS ID: rs376765281
ClinVar ID: CV1110479
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268603  YARS1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 33,276,665
GRCh38 1 32,811,064
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003680.4:c.58-7A>T
LRG_273:g.11969A>T
NG_008408.1:g.11969A>T
NC_000001.11:g.32811064T>A
More... 		12/11/2022 intron variant likely benign CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1110479HumanCharcot-Marie-Tooth disease dominant intermediate C  IAGP 8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate CClinVarPMID:28492532
Gene Symbol:YARS1
Accession:XM_011542347
Location:5UTRS;INTRON

Gene Symbol:YARS1
Accession:NM_003680
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001451057 CLINVAR
dbSNP (RS) rs376765281 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR