RGD:150436908 Rat Genome Database

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Variant: RGD:150436908 -  Homo sapiens

RGD ID: 150436908
RS ID: rs2076577
ClinVar ID: CV1245317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EP300  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,568,480
GRCh38 22 41,172,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001429.4:c.4453-23T>C
NG_009817.1:g.84867T>C
NC_000022.11:g.41172476T>C
NC_000022.10:g.41568480T>C
More... 		07/30/2021 intron variant benign 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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001661282 CLINVAR
  RCV001661283 CLINVAR
  RCV001713671 CLINVAR
dbSNP (RS) rs2076577 CLINVAR
MedGen C3150941 CLINVAR
  C3661900 CLINVAR
  C5193035 CLINVAR
NCBI Gene EP300 CLINVAR
OMIM 602700 CLINVAR
  613684 CLINVAR
  618333 CLINVAR