Variant Results

or

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

SSC07968

chr10:
293337-293337

G

A

splicing

De novo

splicing

26.9

-

Lim2017 E

ZMYND11

1428

chr10:
225959-225959

C

T

exonic

Maternal

nonsynonymous SNV

NM_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

220-9740-202

chr10:
225960-225960

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

33.0

4.994E-5

Wang2020 T

ZMYND11

1-0595-005

chr10:
205686-205687

AC

A

intronic

De novo

-

Yuen2017 G

ZMYND11

AU006804

chr10:
220680-220680

A

G

intronic

De novo

-

Yuen2017 G

ZMYND11

GD0141.p1

chr10:
287979-287979

G

C

exonic

Unknown

nonsynonymous SNV

NM_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

2-1137-003

chr10:
265832-265832

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ZMYND11

1-0338-005

chr10:
304623-304623

G

A

intergenic

De novo

-

Yuen2017 G

ZMYND11

217-14300-4210

chr10:
286882-286882

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

Uddin2014:1

chr10:
293337-293337

G

A

splicing

De novo

splicing

26.9

-

Uddin2014 E

ZMYND11

SF0032271.p2

chr10:
286037-286039

GAC

G

exonic

De novo

frameshift deletion

NM_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

AU4188302

chr10:
187681-187681

T

G

intronic

De novo

-

Yuen2017 G

ZMYND11

13513.p1

chr10:
293337-293337

G

A

splicing

Mosaic, De novo

splicing

26.9

-

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 notes	View
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