RGD:126734810 Rat Genome Database

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Variant: RGD:126734810 -  Homo sapiens

RGD ID: 126734810
RS ID: rs2081057328
ClinVar ID: CV1014371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIK1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 44,841,678
GRCh38 21 43,421,798
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.339T>G
NG_052009.1:g.10335T>G
NC_000021.9:g.43421798A>C
NC_000021.8:g.44841678A>C
More... 		10/03/2020 missense variant uncertain significance Epileptic encephalopathy, early infantile, 30
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:SIK1
Accession:XM_011529474
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001313626 CLINVAR
dbSNP (RS) rs2081057328 CLINVAR
MedGen C4225360 CLINVAR
NCBI Gene SIK1 CLINVAR
OMIM 605705 CLINVAR
  616341 CLINVAR