RGD:13625282 Rat Genome Database

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Variant: RGD:13625282 -  Homo sapiens

RGD ID: 13625282
RS ID: rs376512810
ClinVar ID: CV534452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,838,130
GRCh38 21 43,418,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173354.5:c.1744+10G>A
NG_052009.1:g.13883G>A
NC_000021.9:g.43418250C>T
NC_000021.8:g.44838130C>T
More... 		12/31/2019 intron variant benign Epileptic encephalopathy, early infantile, 30; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIK1
Accession:NM_173354
Location:INTRON

Gene Symbol:SIK1
Accession:XM_011529474
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653193 CLINVAR
  RCV001086018 CLINVAR
dbSNP (RS) rs376512810 CLINVAR
MedGen C3661900 CLINVAR
  C4225360 CLINVAR
NCBI Gene SIK1 CLINVAR
OMIM 605705 CLINVAR
  616341 CLINVAR