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Results for "EZH2"

Variant Events: 21

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
EZH2     SP0009874chr7:
148511065-148511065
GAexonicDe novononsynonymous SNVNM_001203249
NM_152998
NM_001203247
NM_001203248
NM_004456
c.C1669T
c.C1705T
c.C1822T
c.C1795T
c.C1837T
p.R557W
p.R569W
p.R608W
p.R599W
p.R613W
13.32-Feliciano2019 E
EZH2     AU4263304chr7:
148589523-148589523
CTintergenicDe novo--Yuen2017 G
EZH2     2-1526-004chr7:
148633510-148633510
CTintergenicDe novo--Yuen2017 G
EZH2     12175.p1chr7:
148652902-148652902
CTintergenicDe novo--Turner2016 G
EZH2     2-0323-003chr7:
148638362-148638362
GAintergenicDe novo--Yuen2017 G
EZH2     04C36247chr7:
148511241-148511241
GCintronicDe novo--Satterstrom2020 E
EZH2     2-0208-004chr7:
148511241-148511241
GCintronicDe novo--Yuen2017 G
EZH2     2-0198-003chr7:
148652478-148652478
GAintergenicDe novo--Yuen2017 G
EZH2     2-1429-004chr7:
148633515-148633515
CAintergenicDe novo--Yuen2017 G
EZH2     5-0033-004chr7:
148633415-148633415
TAintergenicDe novo--Yuen2017 G
EZH2     5-0061-003chr7:
148633496-148633496
ATintergenicDe novo--Yuen2017 G
EZH2     AU026604chr7:
148503687-148503687
TCdownstreamDe novo--Yuen2017 G
EZH2     1-0162-004chr7:
148633496-148633496
ATintergenicDe novo--Yuen2017 G
EZH2     1-0282-003chr7:
148671568-148671568
GCintergenicDe novo--Yuen2017 G
EZH2     SP0017794chr7:
148512615-148512615
TCexonicDe novononsynonymous SNVNM_152998
NM_001203247
NM_001203248
NM_001203249
NM_004456
c.A1397G
c.A1514G
c.A1487G
c.A1487G
c.A1529G
p.K466R
p.K505R
p.K496R
p.K496R
p.K510R
18.27-Feliciano2019 E
EZH2     2-1505-003chr7:
148633289-148633289
AAGTACintergenicDe novo--Yuen2017 G
EZH2     1-0224-004chr7:
148658395-148658395
GAintergenicDe novo--Yuen2017 G
EZH2     2-0273-003chr7:
148633496-148633496
ATintergenicDe novo--Yuen2017 G
EZH2     1-0006-003chr7:
148633496-148633496
ATintergenicDe novo--Yuen2017 G
EZH2     7-0058-003chr7:
148633289-148633289
AAAGTACintergenicDe novo--Yuen2017 G
EZH2     13874.p1chr7:
148607094-148607094
GAintergenicDe novo--Turner2016 G
Werling2018 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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