RGD:15136744 Rat Genome Database

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Variant: RGD:15136744 -  Homo sapiens

RGD ID: 15136744
RS ID: rs185457813
ClinVar ID: CV695583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 64,878,289
GRCh38 12 64,484,509
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013254.4:c.1189+10G>A
NG_046906.1:g.37450G>A
NC_000012.12:g.64484509G>A
NC_000012.11:g.64878289G>A
More... 		11/22/2023 intron variant benign|likely benign AllHighlyPenetrant; FTDALS4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBK1
Accession:XM_005268809
Location:INTRON

Gene Symbol:TBK1
Accession:NM_013254
Location:INTRON

Gene Symbol:TBK1
Accession:XM_005268810
Location:INTRON

Gene Symbol:TBK1
Accession:XR_007063071
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000876874 CLINVAR
  RCV003479235 CLINVAR
dbSNP (RS) rs185457813 CLINVAR
MedGen C4225325 CLINVAR
  CN169374 CLINVAR
NCBI Gene TBK1 CLINVAR
OMIM 604834 CLINVAR
  616439 CLINVAR