RGD:9682086 Rat Genome Database

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Variant: RGD:9682086 -  Homo sapiens

RGD ID: 9682086
RS ID: rs587783399
ClinVar ID: CV170097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,593,473
GRCh38 X 18,575,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008475.1:g.154749G>A
NC_000023.11:g.18575353G>A
NC_000023.10:g.18593473G>A
NM_001323289.2:c.146-1G>A
More... 		04/02/2021 splice acceptor variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 100 000 Early infantile epileptic encephalopathy 2; INFANTILE SPASM SYNDROME, X-LINKED 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145520 CLINVAR
  RCV001090790 CLINVAR
  RCV001507032 CLINVAR
dbSNP (RS) rs587783399 CLINVAR
MedGen C3661900 CLINVAR
  C4750718 CLINVAR
  CN296942 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR
  300672 CLINVAR