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



ClinVar Data
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
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 RCV003507667 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR