RGD:126761059 Rat Genome Database

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Variant: RGD:126761059 -  Homo sapiens

RGD ID: 126761059
RS ID: rs372776194
ClinVar ID: CV992298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,638,516
GRCh38 7 30,598,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316772.1:c.162+3G>A
NM_002047.4:c.324+3G>A
LRG_243:g.9336G>A
NG_007942.1:g.9336G>A
More... 		10/05/2020 intron variant uncertain significance Charcot-Marie-Tooth, Type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GARS1
Accession:NM_002047
Location:INTRON

Gene Symbol:GARS1
Accession:NM_001316772
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001299978 CLINVAR
dbSNP (RS) rs372776194 CLINVAR
MedGen C0270914 CLINVAR
NCBI Gene GARS1 CLINVAR
OMIM 600287 CLINVAR