rs1227789369 Rat Genome Database

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Variant: rs1227789369 -  Homo sapiens

RGD ID: 15122956
RS ID: rs1227789369
ClinVar ID: CV787008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YARS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 33,245,883
GRCh38 1 32,780,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003680.3:c.1141-4G>A
NG_008408.1:g.42751G>A
NC_000001.11:g.32780282C>T
NC_000001.10:g.33245883C>T
More... 		12/06/2020 intron variant pathogenic|likely benign CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:XM_011542347
Location:INTRON

Gene Symbol:YARS1
Accession:NM_003680
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001462282 CLINVAR
dbSNP (RS) rs1227789369 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR