RGD:13828371 Rat Genome Database

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Variant: RGD:13828371 -  Homo sapiens

RGD ID: 13828371
RS ID: rs372615326
ClinVar ID: CV580486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 44,838,424
GRCh38 21 43,418,544
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.1463-3C>T
NG_052009.1:g.13589C>T
NC_000021.9:g.43418544G>A
NC_000021.8:g.44838424G>A
More...
02/11/2019 intron variant benign Epileptic encephalopathy, early infantile, 30
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000946247 CLINVAR
  RCV002312381 CLINVAR
dbSNP (RS) rs372615326 CLINVAR
MedGen C0950123 CLINVAR
  C4225360 CLINVAR
NCBI Gene SIK1 CLINVAR
OMIM 605705 CLINVAR
  616341 CLINVAR