RGD:405088874 Rat Genome Database

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Variant: RGD:405088874 -  Homo sapiens

RGD ID: 405088874
ClinVar ID: CV3063654
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AARS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 70,287,940
GRCh38 16 70,254,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_359t1:c.2402C>T
NM_001605.3:c.2402C>T
LRG_359:g.40473C>T
NG_023191.1:g.40473C>T
More... 		04/25/2023 missense variant uncertain significance Charcot-Marie-Tooth, Type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AARS1
Accession:NM_001605
Location:EXON

Gene Symbol:AARS1
Accession:XM_047433666
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003745035 CLINVAR
MedGen C0270914 CLINVAR
NCBI Gene AARS1 CLINVAR
OMIM 601065 CLINVAR