RGD:15141321 Rat Genome Database

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Variant: RGD:15141321 -  Homo sapiens

RGD ID: 15141321
RS ID: rs1395266347
ClinVar ID: CV776870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,606,067
GRCh38 X 18,587,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001037343.2:c.555-7T>A
NM_003159.3:c.555-7T>A
NM_001323289.2:c.555-7T>A
NG_008475.1:g.167343T>A
More... 		08/20/2018 intron variant likely benign none provided

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

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000943875 CLINVAR
dbSNP (RS) rs1395266347 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR