RGD:9589223 Rat Genome Database

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Variant: RGD:9589223 -  Homo sapiens

RGD ID: 9589223
RS ID: rs267608658
ClinVar ID: CV165879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 18,643,217
GRCh38 X 18,625,097
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.204493T>C
NC_000023.11:g.18625097T>C
NC_000023.10:g.18643217T>C
NM_001323289.2:c.2377-31T>C
More... 		05/09/2014 intron variant benign|no classifications from unflagged records|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20397747   PMID:23064044  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144130 CLINVAR
  RCV000169959 CLINVAR
dbSNP (RS) rs267608658 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR