RGD:11659082 Rat Genome Database

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Variant: RGD:11659082 -  Homo sapiens

RGD ID: 11659082
RS ID: rs778277906
ClinVar ID: CV338246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EP300  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,550,992
GRCh38 22 41,154,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009817.1:g.67379T>G
NC_000022.11:g.41154988T>G
NC_000022.10:g.41550992T>G
NM_001362843.2:c.3065-7T>G
More... 		10/13/2023 intron variant likely benign|uncertain significance all ages 1-9 / 1 000 000 Rubinstein-Taybi syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EP300
Accession:NM_001362843
Location:INTRON

Gene Symbol:EP300
Accession:NM_001429
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003639662 CLINVAR
  RCV003901250 CLINVAR
dbSNP (RS) rs778277906 CLINVAR
MedGen C3150941 CLINVAR
NCBI Gene EP300 CLINVAR
OMIM 602700 CLINVAR
  613684 CLINVAR