Variant Results

or

Results for "ZMYND8"

Variant Events: 29

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

ZMYND8

2-0033-003

chr20:
46075450-46075450

C

T

intergenic

De novo

-

Yuen2017 G

ZMYND8

SSC06079

chr20:
45927472-45927472

C

T

splicing;exonic

nonsynonymous SNV

NM_001281769

c.G454A

p.V152I

24.4

-

Antaki2022 GE

ZMYND8

Mahjani2021:94

chr20:
45839489-45839490

AT

A

exonic

frameshift deletion

NM_001281771
NM_001281781
NM_001281784
NM_001281776
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183048
NM_001281775
NM_001281777
NM_001281780
NM_183047
NM_001281772
NM_001281773
NM_001281774
NM_001281779

c.3081delA
c.3183delA
c.3321delA
c.3240delA
c.3462delA
c.3327delA
c.3537delA
c.3399delA
c.3324delA
c.3621delA
c.3408delA
c.2595delA
c.3483delA
c.3477delA
c.3561delA
c.3423delA
c.2679delA

p.G1027fs
p.G1061fs
p.G1107fs
p.G1080fs
p.G1154fs
p.G1109fs
p.G1179fs
p.G1133fs
p.G1108fs
p.G1207fs
p.G1136fs
p.G865fs
p.G1161fs
p.G1159fs
p.G1187fs
p.G1141fs
p.G893fs

-

Mahjani2021 E

ZMYND8

80001100861

chr20:
45839489-45839490

AT

A

exonic

De novo

frameshift deletion

NM_001281771
NM_001281781
NM_001281784
NM_001281776
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183048
NM_001281775
NM_001281777
NM_001281780
NM_183047
NM_001281772
NM_001281773
NM_001281774
NM_001281779

c.3081delA
c.3183delA
c.3321delA
c.3240delA
c.3462delA
c.3327delA
c.3537delA
c.3399delA
c.3324delA
c.3621delA
c.3408delA
c.2595delA
c.3483delA
c.3477delA
c.3561delA
c.3423delA
c.2679delA

p.G1027fs
p.G1061fs
p.G1107fs
p.G1080fs
p.G1154fs
p.G1109fs
p.G1179fs
p.G1133fs
p.G1108fs
p.G1207fs
p.G1136fs
p.G865fs
p.G1161fs
p.G1159fs
p.G1187fs
p.G1141fs
p.G893fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZMYND8

1-0107-003

chr20:
46035355-46035355

A

T

intergenic

De novo

-

Yuen2016 G

ZMYND8

AU073005

chr20:
45875250-45875250

T

C

exonic

De novo

nonsynonymous SNV

NM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.A1570G
c.A1570G
c.A1711G
c.A1786G
c.A1786G
c.A1711G
c.A1711G
c.A1711G
c.A1786G
c.A1786G
c.A1786G
c.A1711G
c.A1726G
c.A1726G
c.A982G
c.A982G
c.A1726G

p.I524V
p.I524V
p.I571V
p.I596V
p.I596V
p.I571V
p.I571V
p.I571V
p.I596V
p.I596V
p.I596V
p.I571V
p.I576V
p.I576V
p.I328V
p.I328V
p.I576V

22.4

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZMYND8

12493.p1

chr20:
45996532-45996532

A

G

intergenic

De novo

-

Turner2016 G

ZMYND8

12493.p1

chr20:
45996544-45996544

C

T

intergenic

De novo

-

Turner2016 G

ZMYND8

7-0080-003

chr20:
46017426-46017426

C

A

intergenic

De novo

-

Yuen2017 G

ZMYND8

2-1406-003

chr20:
45847925-45847931

TCTCAAA

T

intronic

De novo

-

Yuen2016 G

ZMYND8

AU2495302

chr20:
46018815-46018815

G

A

intergenic

De novo

-

Yuen2017 G

ZMYND8

SP0022880

chr20:
45920641-45920641

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

ZMYND8

REACH000026

chr20:
45878237-45878237

G

A

intronic

De novo

-

Trost2022 G

ZMYND8

SP0011294

chr20:
45912315-45912315

A

T

exonic

De novo

stopgain

NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281781
NM_001281782
NM_001281783
NM_001281784
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.T807A
c.T882A
c.T882A
c.T807A
c.T807A
c.T807A
c.T807A
c.T882A
c.T807A
c.T882A
c.T882A
c.T807A
c.T822A
c.T822A
c.T78A
c.T78A
c.T822A

p.C269X
p.C294X
p.C294X
p.C269X
p.C269X
p.C269X
p.C269X
p.C294X
p.C269X
p.C294X
p.C294X
p.C269X
p.C274X
p.C274X
p.C26X
p.C26X
p.C274X

39.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZMYND8

3-0180-000

chr20:
45877403-45877403

T

C

intronic

De novo

-

Trost2022 G

ZMYND8

11472.p1

chr20:
45875004-45875004

C

T

exonic

De novo

nonsynonymous SNV

NM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.G1816A
c.G1816A
c.G1957A
c.G2032A
c.G2032A
c.G1957A
c.G1957A
c.G1957A
c.G2032A
c.G2032A
c.G2032A
c.G1957A
c.G1972A
c.G1972A
c.G1228A
c.G1228A
c.G1972A

p.A606T
p.A606T
p.A653T
p.A678T
p.A678T
p.A653T
p.A653T
p.A653T
p.A678T
p.A678T
p.A678T
p.A653T
p.A658T
p.A658T
p.A410T
p.A410T
p.A658T

3.722

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZMYND8

4905

chr20:
45875004-45875004

C

T

exonic

De novo

nonsynonymous SNV

NM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.G1816A
c.G1816A
c.G1957A
c.G2032A
c.G2032A
c.G1957A
c.G1957A
c.G1957A
c.G2032A
c.G2032A
c.G2032A
c.G1957A
c.G1972A
c.G1972A
c.G1228A
c.G1228A
c.G1972A

p.A606T
p.A606T
p.A653T
p.A678T
p.A678T
p.A653T
p.A653T
p.A653T
p.A678T
p.A678T
p.A678T
p.A653T
p.A658T
p.A658T
p.A410T
p.A410T
p.A658T

3.722

-

Fu2022 E
Trost2022 G

ZMYND8

AU2728301

chr20:
45875071-45875071

C

CT

exonic

frameshift insertion

NM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.1748dupA
c.1748dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1889dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1904dupA
c.1904dupA
c.1160dupA
c.1160dupA
c.1904dupA

p.K583fs
p.K583fs
p.K630fs
p.K655fs
p.K655fs
p.K630fs
p.K630fs
p.K630fs
p.K655fs
p.K655fs
p.K655fs
p.K630fs
p.K635fs
p.K635fs
p.K387fs
p.K387fs
p.K635fs

-

8.237E-6

Zhou2022 GE

ZMYND8

3-0229-000

chr20:
45927689-45927689

T

G

exonic

De novo

synonymous SNV

NM_001281769
NM_001281775
NM_001281776
NM_001281783
NM_012408
NM_183047
NM_001281773
NM_001281774

c.A237C
c.A237C
c.A237C
c.A237C
c.A237C
c.A237C
c.A177C
c.A177C

p.S79S
p.S79S
p.S79S
p.S79S
p.S79S
p.S79S
p.S59S
p.S59S

-

Trost2022 G
Zhou2022 GE

ZMYND8

5-0004-003

chr20:
46080064-46080064

A

G

intergenic

De novo

-

Yuen2017 G

ZMYND8

3-0305-000

chr20:
45986185-45986185

G

A

upstream

De novo

-

Trost2022 G

ZMYND8

08C76266

chr20:
45875071-45875071

C

CT

exonic

De novo

frameshift insertion

NM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772

c.1748dupA
c.1748dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1889dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1904dupA
c.1904dupA
c.1160dupA
c.1160dupA
c.1904dupA

p.K583fs
p.K583fs
p.K630fs
p.K655fs
p.K655fs
p.K630fs
p.K630fs
p.K630fs
p.K655fs
p.K655fs
p.K655fs
p.K630fs
p.K635fs
p.K635fs
p.K387fs
p.K387fs
p.K635fs

-

8.237E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZMYND8

1-0568-003

chr20:
45956228-45956228

C

T

intronic

De novo

-

Trost2022 G

ZMYND8

1-0568-003

chr20:
45956217-45956217

A

G

intronic

De novo

-

Trost2022 G

ZMYND8

1-0568-003

chr20:
45956213-45956213

C

G

intronic

De novo

-

Trost2022 G

ZMYND8

1-0188-003

chr20:
45952662-45952662

T

TTTGAG

intronic

De novo

-

Trost2022 G

ZMYND8

3-0116-001

chr20:
45914591-45914591

A

T

intronic

De novo

-

Trost2022 G

ZMYND8

AU4379301

chr20:
45979375-45979375

A

C

intronic

De novo

-

Yuen2017 G

ZMYND8

REACH000171

chr20:
45886472-45886472

C

A

intronic

De novo

-

Trost2022 G

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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