Variant Results

or

or

Results for "ZMYM4"

Variant Events: 22

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

ZMYM4

2-1629-003

chr1:
35863475-35863475

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZMYM4

Wang2023:165

chr1:
35824693-35824693

G

A

exonic

De novo

nonsynonymous SNV

NM_005095

c.G253A

p.V85I

13.06

Wang2023 E

ZMYM4

2-0270-004

chr1:
35807610-35807610

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZMYM4

2-1128-003

chr1:
35832388-35832388

G

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ZMYM4

SP0105803

chr1:
35836128-35836128

A

G

exonic

De novo

nonsynonymous SNV

NM_005095

c.A1081G

p.T361A

13.86

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZMYM4

C234403

chr1:
35847210-35847210

A

T

exonic

De novo

stopgain

NM_005095

c.A1420T

p.K474X

28.8

-

Fu2022 E

ZMYM4

1-0329-004

chr1:
35811769-35811769

C

CTAAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZMYM4

MSSNG00019-003A

chr1:
35800593-35800593

T

C

intronic

De novo

-

-

Trost2022 G

ZMYM4

7-0286-004A

chr1:
35763880-35763880

G

A

intronic

De novo

-

-

Trost2022 G

ZMYM4

Cukier2014:7531

chr1:
35847032-35847032

G

A

exonic

Unknown

nonsynonymous SNV

NM_005095

c.G1354A

p.V452I

27.9

Cukier2014 E

ZMYM4

MSSNG00028-004

chr1:
35816995-35816995

A

G

intronic

De novo

-

-

Trost2022 G

ZMYM4

2-1097-003

chr1:
35804906-35804907

GC

AT

intronic

De novo

-

-

Trost2022 G

ZMYM4

SP0099185

chr1:
35864446-35864446

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ZMYM4

1-1233-003

chr1:
35885277-35885277

A

C

exonic

De novo

stoploss

NM_005095

c.A4646C

p.X1549S

12.56

-

Trost2022 G
Zhou2022 GE

ZMYM4

1-1196-003

chr1:
35741502-35741502

T

C

intronic

De novo

-

-

Trost2022 G

ZMYM4

SP0075204

chr1:
35853265-35853265

A

G

intronic

De novo

-

-

Fu2022 E

ZMYM4

2-1519-003

chr1:
35757396-35757396

G

A

intronic

De novo

-

-

Trost2022 G

ZMYM4

5-5007-003

chr1:
35748072-35748072

A

G

intronic

De novo

-

-

Trost2022 G

ZMYM4

1-0454-003

chr1:
35852825-35852825

A

T

exonic

De novo

nonsynonymous SNV

NM_005095

c.A2058T

p.K686N

11.97

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

ZMYM4

1972-24038

chr1:
35885169-35885170

AC

A

exonic

frameshift deletion

NM_005095

c.4539delC

p.D1513fs

-

-

Callaghan2019 G

ZMYM4

7-0444-003

chr1:
35845752-35845752

A

G

intronic

De novo

-

-

Trost2022 G

ZMYM4

SP0028485

chr1:
35851789-35851789

A

AGAATTTATTCAACAAACCAACT

exonic

frameshift insertion

NM_005095

c.1835_1836insGAATTTATTCAACAAACCAACT

p.Q612fs

-

-

Antaki2022 GE

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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