or
or
Exact

Results for "ZMYND11"

Variant Events: 13

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
ZMYND11     SSC07968chr10:
293337-293337
GAsplicingDe novosplicing26.9-Lim2017 E
ZMYND11     1428chr10:
225959-225959
CTexonicMaternalnonsynonymous SNVNM_001202467
NM_001202468
NM_001202464
NM_001202465
NM_001202466
NM_006624
NM_212479
c.C7T
c.C7T
c.C7T
c.C7T
c.C7T
c.C7T
c.C7T
p.R3C
p.R3C
p.R3C
p.R3C
p.R3C
p.R3C
p.R3C
24.5-Wang2020 T
Wang2020 T
ZMYND11     220-9740-202chr10:
225960-225960
GAexonicUnknownnonsynonymous SNVNM_001202467
NM_001202468
NM_001202464
NM_001202465
NM_001202466
NM_006624
NM_212479
c.G8A
c.G8A
c.G8A
c.G8A
c.G8A
c.G8A
c.G8A
p.R3H
p.R3H
p.R3H
p.R3H
p.R3H
p.R3H
p.R3H
33.04.994E-5Wang2020 T
ZMYND11     1-0595-005chr10:
205686-205687
ACAintronicDe novo--Yuen2017 G
ZMYND11     AU006804chr10:
220680-220680
AGintronicDe novo--Yuen2017 G
ZMYND11     GD0141.p1chr10:
287979-287979
GCexonicUnknownnonsynonymous SNVNM_001202465
NM_001202467
NM_001202464
NM_001202466
NM_001202468
NM_006624
NM_212479
c.G595C
c.G688C
c.G688C
c.G685C
c.G850C
c.G850C
c.G847C
p.V199L
p.V230L
p.V230L
p.V229L
p.V284L
p.V284L
p.V283L
36.0-Wang2020 T
Wang2020 T
ZMYND11     2-1137-003chr10:
265832-265832
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ZMYND11     1-0338-005chr10:
304623-304623
GAintergenicDe novo--Yuen2017 G
ZMYND11     217-14300-4210chr10:
286882-286882
GAexonicUnknownnonsynonymous SNVNM_001202465
NM_001202467
NM_001202464
NM_001202466
NM_001202468
NM_006624
NM_212479
c.G548A
c.G641A
c.G641A
c.G638A
c.G803A
c.G803A
c.G800A
p.R183H
p.R214H
p.R214H
p.R213H
p.R268H
p.R268H
p.R267H
34.0-Stessman2017 T
Wang2020 T
Wang2020 T
ZMYND11     Uddin2014:1chr10:
293337-293337
GAsplicingDe novosplicing26.9-Uddin2014 E
ZMYND11     SF0032271.p2chr10:
286037-286039
GACGexonicDe novoframeshift deletionNM_001202465
NM_001202467
NM_001202464
NM_001202466
NM_001202468
NM_006624
NM_212479
c.485_486del
c.578_579del
c.578_579del
c.575_576del
c.740_741del
c.740_741del
c.737_738del
p.D162fs
p.D193fs
p.D193fs
p.D192fs
p.D247fs
p.D247fs
p.D246fs
--Wang2020 T
ZMYND11     AU4188302chr10:
187681-187681
TGintronicDe novo--Yuen2017 G
ZMYND11     13513.p1chr10:
293337-293337
GAsplicingMosaic, De novosplicing26.9-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Source Variant Information

, -

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
More