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Results for "EHMT2"

Variant Events: 9

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
EHMT2     Cukier2014:7435chr6:
31864538-31864538
GAexonicUnknownnonsynonymous SNVNM_001289413
NM_006709
NM_025256
c.C344T
c.C173T
c.C173T
p.S115F
p.S58F
p.S58F
9.0110.0181Cukier2014 E
EHMT2     5-0015-004chr6:
31863813-31863813
AGintronicDe novo--Yuen2017 G
EHMT2     PN400548chr6:
31850558-31850558
GAexonicUnknownnonsynonymous SNVNM_001289413
NM_025256
NM_006709
c.C3184T
c.C3013T
c.C3115T
p.R1062W
p.R1005W
p.R1039W
23.3-Leblond2019 E
EHMT2     1-0485-003chr6:
31864089-31864089
GAexonicDe novononsynonymous SNVNM_001289413
NM_006709
NM_025256
c.C704T
c.C533T
c.C533T
p.P235L
p.P178L
p.P178L
16.75-Yuen2017 G
EHMT2     PN400517chr6:
31850558-31850558
GAexonicUnknownnonsynonymous SNVNM_001289413
NM_025256
NM_006709
c.C3184T
c.C3013T
c.C3115T
p.R1062W
p.R1005W
p.R1039W
23.3-Leblond2019 E
EHMT2     2-1261-003chr6:
31848569-31848569
GAexonicDe novosynonymous SNVNM_001289413
NM_025256
NM_006709
c.C3402T
c.C3231T
c.C3333T
p.I1134I
p.I1077I
p.I1111I
--Yuen2017 G
EHMT2     PN400341chr6:
31850558-31850558
GAexonicUnknownnonsynonymous SNVNM_001289413
NM_025256
NM_006709
c.C3184T
c.C3013T
c.C3115T
p.R1062W
p.R1005W
p.R1039W
23.3-Leblond2019 E
EHMT2     1-0490-003chr6:
31850860-31850860
TAintronicDe novo--Yuen2017 G
EHMT2     1-0485-003chr6:
31861361-31861361
GAintronicDe novo--Yuen2017 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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