RGD:9682477 Rat Genome Database

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Variant: RGD:9682477 -  Homo sapiens

RGD ID: 9682477
RS ID: rs587783622
ClinVar ID: CV169837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EP300  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,574,960
GRCh38 22 41,178,956
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.91347G>A
NC_000022.11:g.41178956G>A
NC_000022.10:g.41574960G>A
NP_001420.2:p.Ter2415=
More... 		03/18/2013 synonymous variant likely benign AllHighlyPenetrant

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

Gene Symbol:EP300
Accession:NM_001362843
Location:EXON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145962 CLINVAR
dbSNP (RS) rs587783622 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EP300 CLINVAR
OMIM 602700 CLINVAR