RGD:11606225 Rat Genome Database

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Variant: RGD:11606225 -  Homo sapiens

RGD ID: 11606225
ClinVar ID: CV305363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 148,512,642
GRCh38 7 148,815,550
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
LRG_531t1:c.1506-4G>A
NM_004456.4:c.1506-4G>A
LRG_531:g.73800G>A
NG_032043.1:g.73800G>A
More... 		06/14/2016 intron variant uncertain significance antenatal <1 / 1 000 000 Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; Weaver Smith syndrome

Variant Details
Variant Transcripts
Gene Symbol:EZH2
Accession:XM_011515895
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419996
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515901
Location:INTRON

Gene Symbol:EZH2
Accession:NM_152998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515885
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011819
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011820
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515883
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515896
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420004
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419992
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419989
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420006
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249963
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515893
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420002
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203247
Location:INTRON

Gene Symbol:EZH2
Accession:NM_004456
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203249
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419995
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420005
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249962
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515899
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011817
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419994
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515894
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420008
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420007
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419993
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419991
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203248
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515890
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515892
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420000
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419999
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419997
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515889
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420009
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249964
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419990
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515887
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420001
Location:INTRON

Variant Samples