RGD:11660128 Rat Genome Database

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Variant: RGD:11660128 -  Homo sapiens

RGD ID: 11660128
ClinVar ID: CV351656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EP300  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,488,797
GRCh38 22 41,092,793
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.5184C>T
NC_000022.11:g.41092793C>T
NC_000022.10:g.41488797C>T
NM_001362843.2:c.-212C>T
More... 		06/14/2016 5 prime utr variant uncertain significance all ages 1-9 / 1 000 000 Broad thumbs and great toes, characteristic facies, and mental retardation; Rubinstein syndrome; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE

Variant Details
Variant Transcripts
Gene Symbol:EP300
Accession:NM_001429
Location:5UTRS;EXON

Gene Symbol:EP300
Accession:NM_001362843
Location:5UTRS;EXON

Variant Samples