Variant Results

or

Results for "ZMIZ1"

Variant Events: 35

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

ZMIZ1

SSC02884

chr10:
81066040-81066040

G

A

exonic

De novo

synonymous SNV

NM_020338

c.G2607A

p.P869P

-

4.15E-5

Fu2022 E
Lim2017 E
Trost2022 G

ZMIZ1

2-1189-003

chr10:
80895683-80895683

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ZMIZ1

7-0103-003

chr10:
81068189-81068189

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

AU4263304

chr10:
80833080-80833080

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

1-0259-003

chr10:
81077990-81077990

G

A

intergenic

De novo

-

Yuen2017 G

ZMIZ1

1-0564-003

chr10:
80843796-80843801

GCATGT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

1-0591-003

chr10:
81086117-81086117

G

T

intergenic

De novo

-

Yuen2017 G

ZMIZ1

PN400551

chr10:
81061948-81061948

G

A

exonic

Unknown

nonsynonymous SNV

NM_020338

c.G2104A

p.A702T

36.0

-

Leblond2019 E

ZMIZ1

1-0279-004

chr10:
80901557-80901557

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

7-0240-005

chr10:
80961399-80961399

A

G

exonic

De novo

nonsynonymous SNV

NM_020338

c.A10G

p.M4V

18.5

-

Trost2022 G
Zhou2022 GE

ZMIZ1

11194.p1

chr10:
81041910-81041910

C

T

intronic

De novo

-

Turner2016 G

ZMIZ1

AU036203

chr10:
81034922-81034922

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

13023.p1

chr10:
80919716-80919716

C

T

intronic

De novo

-

Turner2016 G

ZMIZ1

08C74853

chr10:
81072514-81072514

C

T

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

ZMIZ1

A24

chr10:
81068554-81068554

C

T

intronic

De novo

-

Wu2018 G

ZMIZ1

Mahjani2021:56

chr10:
81058884-81058884

A

G

exonic

nonsynonymous SNV

NM_020338

c.A1744G

p.N582D

35.0

-

Mahjani2021 E

ZMIZ1

SSC07822

chr10:
81067209-81067209

C

A

exonic

De novo

nonsynonymous SNV

NM_020338

c.C2716A

p.P906T

19.02

-

Fu2022 E

ZMIZ1

AU3862305

chr10:
80968731-80968731

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

2-1519-003

chr10:
80937228-80937228

G

A

intronic

De novo

-

Trost2022 G

ZMIZ1

REACH000639

chr10:
80965138-80965138

T

G

intronic

De novo

-

Trost2022 G

ZMIZ1

3-0719-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ZMIZ1

2-1519-006

chr10:
80937228-80937228

G

A

intronic

De novo

-

Trost2022 G

ZMIZ1

11090.p1

chr10:
81066040-81066040

G

A

exonic

De novo

synonymous SNV

NM_020338

c.G2607A

p.P869P

-

4.15E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZMIZ1

MSSNG00213-003

chr10:
80839690-80839690

G

C

intronic

De novo

-

Trost2022 G

ZMIZ1

5G257

chr10:
81072363-81072363

C

T

intronic

De novo

-

1.649E-5

Satterstrom2020 E
Trost2022 G

ZMIZ1

AU076508

chr10:
81104435-81104435

T

C

intergenic

De novo

-

Yuen2017 G

ZMIZ1

3-0626-000A

chr10:
81075081-81075081

A

G

UTR3

De novo

-

Trost2022 G

ZMIZ1

1-0144-004

chr10:
81033794-81033794

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

PN400532

chr10:
81061948-81061948

G

A

exonic

Unknown

nonsynonymous SNV

NM_020338

c.G2104A

p.A702T

36.0

-

Leblond2019 E

ZMIZ1

80001101637

chr10:
81070636-81070636

T

TCCTCA

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ZMIZ1

SP0032556

chr10:
81053061-81053061

T

A

intronic

De novo

-

Trost2022 G

ZMIZ1

4-0022-003

chr10:
81069875-81069875

C

T

intronic

De novo

-

Trost2022 G

ZMIZ1

REACH000727

chr10:
80990441-80990441

C

T

intronic

De novo

-

Trost2022 G

ZMIZ1

1-0104-004

chr10:
81003809-81003818

TGCTCAGTCG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMIZ1

MSSNG00060-003

chr10:
81026562-81026562

A

G

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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