rs775960927 Rat Genome Database

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Variant: rs775960927 -  Homo sapiens

RGD ID: 126760545
RS ID: rs775960927
ClinVar ID: CV992187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 148,524,361
GRCh38 7 148,827,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152998.3:c.509-3T>C
NM_001203248.2:c.599-3T>C
NM_001203249.2:c.599-3T>C
NM_001203247.2:c.626-3T>C
More... 		12/03/2022 intron variant uncertain significance none provided; 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:XM_011515895
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420002
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419990
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420007
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249963
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420001
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515887
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515894
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515896
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515893
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011820
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420000
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515892
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203248
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419992
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419996
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515883
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011817
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419999
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420008
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420009
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515885
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515889
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515899
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420004
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419994
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203247
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203249
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515901
Location:INTRON

Gene Symbol:EZH2
Accession:NM_004456
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419997
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419993
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419995
Location:INTRON

Gene Symbol:EZH2
Accession:NM_152998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249962
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419989
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420005
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249964
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515890
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011819
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419991
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420006
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001309346 CLINVAR
  RCV004692465 CLINVAR
dbSNP (RS) rs775960927 CLINVAR
MedGen C0265210 CLINVAR
  C3661900 CLINVAR
NCBI Gene EZH2 CLINVAR
OMIM 277590 CLINVAR
  601573 CLINVAR
SNOMED CT 63119004 CLINVAR