RGD:8640650 Rat Genome Database

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Variant: RGD:8640650 -  Homo sapiens

RGD ID: 8640650
RS ID: rs9611506
ClinVar ID: CV99636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EP300  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,542,838
GRCh38 22 41,146,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009817.1:g.59225T>A
NC_000022.11:g.41146834T>A
NC_000022.10:g.41542838T>A
NM_001362843.2:c.2054-1003T>A
More... 		08/17/2018 intron|intron variant benign AllHighlyPenetrant; none provided; Rubinstein-Taybi syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EP300
Accession:NM_001429
Location:INTRON

Gene Symbol:EP300
Accession:NM_001362843
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000079670 CLINVAR
  RCV001610361 CLINVAR
  RCV002515763 CLINVAR
dbSNP (RS) rs9611506 CLINVAR
MedGen C3150941 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EP300 CLINVAR
OMIM 602700 CLINVAR
  613684 CLINVAR