RGD:405089196 Rat Genome Database

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Variant: RGD:405089196 -  Homo sapiens

RGD ID: 405089196
ClinVar ID: CV3012348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 30,651,871
GRCh38 7 30,612,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002047.4:c.1031+10A>T
NM_001316772.1:c.869+10A>T
LRG_243:g.22691A>T
NG_007942.1:g.22691A>T
More... 		03/19/2023 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003744502 CLINVAR
MedGen C0270914 CLINVAR
NCBI Gene GARS1 CLINVAR
OMIM 600287 CLINVAR