RGD:9682081 Rat Genome Database

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Variant: RGD:9682081 -  Homo sapiens

RGD ID: 9682081
RS ID: rs587783397
ClinVar ID: CV170095
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 18,443,713
GRCh38 X 18,425,593
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.4989C>G
NC_000023.11:g.18425593C>G
NC_000023.10:g.18443713C>G
NM_003159.2:c.-265C>G
More... 		05/09/2014 2kb upstream variant|upstream transcript variant benign AllHighlyPenetrant

Variant Details
Variant Samples
Additional References at PubMed
PMID:16015284   PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145511 CLINVAR
dbSNP (RS) rs587783397 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CDKL5 CLINVAR
OMIM 300203 CLINVAR