RGD:9589219 Rat Genome Database

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Variant: RGD:9589219 -  Homo sapiens

RGD ID: 9589219
RS ID: rs3752484
ClinVar ID: CV165875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,638,204
GRCh38 X 18,620,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008475.1:g.199480T>A
NC_000023.11:g.18620084T>A
NC_000023.10:g.18638204T>A
NM_003159.2:c.2376+118T>A
More... 		06/14/2018 intron variant benign|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16015284   PMID:20397747  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144126 CLINVAR
  RCV000169958 CLINVAR
dbSNP (RS) rs3752484 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR