RGD:405088263 Rat Genome Database

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Variant: RGD:405088263 -  Homo sapiens

RGD ID: 405088263
ClinVar ID: CV3028992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 148,506,255
GRCh38 7 148,809,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001203249.2:c.1943-8C>T
NM_152998.3:c.1979-8C>T
NM_001203248.2:c.2069-8C>T
NM_001203247.2:c.2096-8C>T
More... 		04/28/2023 intron variant likely benign Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; Weaver Smith syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EZH2
Accession:NM_001203248
Location:INTRON

Gene Symbol:EZH2
Accession:NM_152998
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_005249962
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249964
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249963
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515887
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515894
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515883
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515895
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515885
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515896
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515893
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515890
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515892
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515889
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515901
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515899
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011819
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011820
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011817
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420002
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420004
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420001
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419999
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419990
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419997
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419992
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419993
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419994
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419989
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419991
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420000
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419996
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419995
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420005
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420006
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420008
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420007
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420009
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003613518 CLINVAR
MedGen C0265210 CLINVAR
NCBI Gene EZH2 CLINVAR
OMIM 277590 CLINVAR
  601573 CLINVAR
SNOMED CT 63119004 CLINVAR