RGD:34889751 Rat Genome Database

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Variant: RGD:34889751 -  Homo sapiens

RGD ID: 34889751
RS ID: rs1791560409
ClinVar ID: CV905595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,649,363
GRCh38 7 30,609,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.30649363G>A
LRG_243t1:c.881+17G>A
NM_001316772.1:c.719+17G>A
NM_002047.4:c.881+17G>A
More... 		intron variant likely benign Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GARS1
Accession:NM_001316772
Location:INTRON

Gene Symbol:GARS1
Accession:NM_002047
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001172974 CLINVAR
  RCV002240912 CLINVAR
dbSNP (RS) rs1791560409 CLINVAR
MedGen C0007959 CLINVAR
  C0270914 CLINVAR
NCBI Gene GARS1 CLINVAR
OMIM 600287 CLINVAR
SNOMED CT 50548001 CLINVAR