RGD:14724801 Rat Genome Database

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Variant: RGD:14724801 -  Homo sapiens

RGD ID: 14724801
RS ID: rs142866662
ClinVar ID: CV653231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIK1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 44,838,428
GRCh38 21 43,418,548
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.1463-7C>G
NG_052009.1:g.13585C>G
NC_000021.9:g.43418548G>C
NC_000021.8:g.44838428G>C
More... 		10/31/2022 intron variant likely benign|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: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 RCV000814932 CLINVAR
dbSNP (RS) rs142866662 CLINVAR
MedGen C4225360 CLINVAR
NCBI Gene SIK1 CLINVAR
OMIM 605705 CLINVAR
  616341 CLINVAR