RGD:12846319 Rat Genome Database

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Variant: RGD:12846319 -  Homo sapiens

RGD ID: 12846319
RS ID: rs201591441
ClinVar ID: CV372453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NARS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 78,152,130
GRCh38 11 78,441,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042046.1:g.138781A>G
NC_000011.10:g.78441084T>C
NC_000011.9:g.78152130T>C
NM_024678.6:c.1289+7A>G
More... 		09/01/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:NARS2
Accession:XM_011545253
Location:INTRON

Gene Symbol:NARS2
Accession:XM_047427594
Location:INTRON

Gene Symbol:NARS2
Accession:NM_024678
Location:INTRON

Gene Symbol:NARS2
Accession:XM_047427592
Location:INTRON

Gene Symbol:NARS2
Accession:XM_047427591
Location:INTRON

Gene Symbol:NARS2
Accession:XM_047427593
Location:INTRON

Gene Symbol:NARS2
Accession:XM_047427595
Location:INTRON

Gene Symbol:NARS2
Accession:NM_001243251
Location:INTRON

Gene Symbol:NARS2
Accession:XM_017018302
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000441423 CLINVAR
  RCV000894427 CLINVAR
  RCV003912661 CLINVAR
dbSNP (RS) rs201591441 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NARS2 CLINVAR
OMIM 612803 CLINVAR