RGD:126739860 Rat Genome Database

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Variant: RGD:126739860 -  Homo sapiens

RGD ID: 126739860
RS ID: rs1925269123
ClinVar ID: CV999704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,593,615
GRCh38 X 18,575,495
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.282+5G>A
NM_001323289.2:c.282+5G>A
NM_003159.3:c.282+5G>A
NG_008475.1:g.154891G>A
More... 		07/12/2020 intron variant uncertain significance Angelman syndrome-like; Early infantile epileptic encephalopathy 2; INFANTILE SPASM SYNDROME, X-LINKED 2
Disease Annotations     Click to see Annotation Detail View


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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001295677 CLINVAR
dbSNP (RS) rs1925269123 CLINVAR
MedGen C4750718 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR
  300672 CLINVAR