Variant Results

or

Results for "ZFHX3"

Variant Events: 81

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

ZFHX3

P1204

chr16:
72845532-72845532

G

A

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.C1066T
c.C3808T

p.H356Y
p.H1270Y

20.2

-

Hashimoto2016 E

ZFHX3

SP0139169

chr16:
72993848-72993848

G

A

exonic

De novo

nonsynonymous SNV

NM_006885

c.C197T

p.A66V

1.661

2.802E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFHX3

SP0028756

chr16:
72992736-72992736

C

G

exonic

De novo

nonsynonymous SNV

NM_006885

c.G1309C

p.G437R

9.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFHX3

1-0652-004

chr16:
72916235-72916235

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

SP0060858

chr16:
72993145-72993145

G

A

exonic

De novo

synonymous SNV

NM_006885

c.C900T

p.H300H

-

4.118E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFHX3

AU4343302

chr16:
72921869-72921869

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

233-10-113234

chr16:
72832575-72832575

C

T

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.G1264A
c.G4006A

p.A422T
p.A1336T

6.619

1.7E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFHX3

AU1725302

chr16:
72906506-72906506

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

AU3703302

chr16:
72960645-72960645

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

SP0054119

chr16:
72821615-72821642

GCCACCGCCGCCGCCGCCGCCACTGCCA

G

exonic

nonframeshift deletion

NM_001164766
NM_006885

c.7791_7817del
c.10533_10559del

p.2597_2606del
p.3511_3520del

-

Zhou2022 GE

ZFHX3

13171.p1

chr16:
73073324-73073324

A

C

intronic

De novo

-

Turner2016 G

ZFHX3

SP0048064

chr16:
72993366-72993366

C

T

exonic

De novo

nonsynonymous SNV

NM_006885

c.G679A

p.V227I

11.36

2.0E-4

Trost2022 G
Zhou2022 GE

ZFHX3

MSSNG00069-003

chr16:
72831325-72831325

A

G

exonic

De novo

synonymous SNV

NM_001164766
NM_006885

c.T2514C
c.T5256C

p.V838V
p.V1752V

-

Trost2022 G
Zhou2022 GE

ZFHX3

5-0068-003

chr16:
72830776-72830776

G

A

exonic

De novo

synonymous SNV

NM_001164766
NM_006885

c.C3063T
c.C5805T

p.R1021R
p.R1935R

-

Trost2022 G
Zhou2022 GE

ZFHX3

SP0097198

chr16:
72991954-72991954

C

T

exonic

De novo

synonymous SNV

NM_006885

c.G2091A

p.P697P

-

1.0E-4

Trost2022 G
Zhou2022 GE

ZFHX3

SP0040215

chr16:
72991711-72991711

A

AGCCGCC

exonic

nonframeshift insertion

NM_006885

c.2333_2334insGGCGGC

p.A778delinsAAA

-

2.0E-4

Zhou2022 GE

ZFHX3

SP0242864

chr16:
72845609-72845609

G

A

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.C989T
c.C3731T

p.T330M
p.T1244M

20.9

1.0E-4

Trost2022 G
Zhou2022 GE

ZFHX3

SP0100868

chr16:
72831357-72831366

CTTGTTGTTG

C

exonic

nonframeshift deletion

NM_001164766
NM_006885

c.2473_2481del
c.5215_5223del

p.825_827del
p.1739_1741del

-

9.0E-4

Zhou2022 GE

ZFHX3

SP0083510

chr16:
72991467-72991467

C

T

exonic

De novo

nonsynonymous SNV

NM_006885

c.G2578A

p.E860K

16.53

-

Trost2022 G
Zhou2022 GE

ZFHX3

SP0253045

chr16:
72829677-72829677

C

T

exonic

nonsynonymous SNV

NM_001164766
NM_006885

c.G4162A
c.G6904A

p.E1388K
p.E2302K

21.2

-

Zhou2022 GE

ZFHX3

SP0324190

chr16:
72821572-72821572

C

T

exonic

nonsynonymous SNV

NM_001164766
NM_006885

c.G7861A
c.G10603A

p.E2621K
p.E3535K

17.3

-

Zhou2022 GE

ZFHX3

1-0579-003

chr16:
73105355-73105377

TCTGCTGCTGCTGCTGCTGCTGC

TCTGCTGCTGCTGCTGCTGC

intergenic

De novo

-

Yuen2017 G

ZFHX3

AU246A

chr16:
72991675-72991675

G

A

exonic

De novo

synonymous SNV

NM_006885

c.C2370T

p.C790C

-

1.655E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFHX3

1-0300-004

chr16:
73008205-73008205

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

1-0246-004

chr16:
73037474-73037474

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

2-0012-004

chr16:
73118223-73118223

A

G

intergenic

De novo

-

Yuen2017 G

ZFHX3

5-0033-004

chr16:
72830569-72830569

G

A

exonic

De novo

synonymous SNV

NM_001164766
NM_006885

c.C3270T
c.C6012T

p.H1090H
p.H2004H

-

8.271E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFHX3

AU3912301

chr16:
72861026-72861026

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

SSC09647

chr16:
72991513-72991513

G

T

exonic

De novo

nonsynonymous SNV

NM_006885

c.C2532A

p.H844Q

10.86

-

Fu2022 E
Lim2017 E
Trost2022 G

ZFHX3

SSC11990

chr16:
72831723-72831723

G

GT

exonic

frameshift insertion

NM_001164766
NM_006885

c.2115dupA
c.4857dupA

p.H706fs
p.H1620fs

-

Antaki2022 GE

ZFHX3

G01-GEA-42-HI

chr16:
72821378-72821378

G

A

exonic

De novo

synonymous SNV

NM_001164766
NM_006885

c.C8055T
c.C10797T

p.P2685P
p.P3599P

-

Lim2017 E

ZFHX3

1-0671-003

chr16:
72976934-72976934

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

NDAR_INVFD105FB0_wes1

chr16:
72984913-72984913

C

T

intronic

De novo

-

9.084E-6

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ZFHX3

1-0901-004

chr16:
72984616-72984616

G

A

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.C226T
c.C2968T

p.R76C
p.R990C

17.02

3.0E-4

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFHX3

SJD_50

chr16:
72821344-72821344

G

A

exonic

Maternal

nonsynonymous SNV

NM_001164766
NM_006885

c.C8089T
c.C10831T

p.H2697Y
p.H3611Y

5.029

0.0079

Toma2013 E

ZFHX3

7-0067-003

chr16:
73048815-73048815

T

C

intronic

De novo

-

Yuen2017 G

ZFHX3

14486.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001164766
NM_006885
NM_001164766
NM_006885

c.2115dupA
c.4857dupA
c.2115dupA
c.4857dupA

p.H706fs
p.H1620fs
p.L705fs
p.L1619fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ZFHX3

14033.p1

chr16:
72991513-72991513

G

T

exonic

De novo

nonsynonymous SNV

NM_006885

c.C2532A

p.H844Q

10.86

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZFHX3

13062.p1

chr16:
72992621-72992630

TCCTCCTCCG

T

exonic

De novo

nonframeshift deletion

NM_006885

c.1415_1423del

p.472_475del

-

Iossifov2014 E
Kosmicki2017 E

ZFHX3

F10794-1

chr16:
72832377-72832377

G

A

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.C1462T
c.C4204T

p.R488C
p.R1402C

15.97

1.648E-5

Fu2022 E

ZFHX3

2-1089-003

chr16:
72989504-72989504

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

14486_p1

chr16:
72831723-72831723

G

GT

exonic

De novo

frameshift insertion

NM_001164766
NM_006885

c.2115dupA
c.4857dupA

p.H706fs
p.H1620fs

-

Fu2022 E

ZFHX3

AU3517301

chr16:
72991360-72991360

G

A

exonic

De novo

synonymous SNV

NM_006885

c.C2685T

p.P895P

-

1.67E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFHX3

7-0333-003

chr16:
72876320-72876320

T

C

intronic

De novo

-

Trost2022 G

ZFHX3

1-0162-004

chr16:
72884388-72884388

A

G

intronic

De novo

-

Yuen2017 G

ZFHX3

2-0068-003

chr16:
73048302-73048302

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

7-0484-003

chr16:
72883816-72883816

A

C

intronic

De novo

-

Trost2022 G

ZFHX3

MSSNG00239-003

chr16:
72862343-72862343

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

MSSNG00037-003

chr16:
72872153-72872153

T

G

intronic

De novo

-

Trost2022 G

ZFHX3

1-0375-003

chr16:
72915066-72915066

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZFHX3

10C109061

chr16:
72845633-72845633

T

C

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.A965G
c.A3707G

p.N322S
p.N1236S

17.51

2.479E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFHX3

5-5025-004

chr16:
72822798-72822798

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

SP0007272

chr16:
72991377-72991377

C

T

exonic

Mosaic

nonsynonymous SNV

NM_006885

c.G2668A

p.G890R

17.91

8.278E-6

Feliciano2019 E

ZFHX3

5-0076-003

chr16:
72857555-72857555

T

C

intronic

De novo

-

Trost2022 G

ZFHX3

7-0291-003A

chr16:
72821642-72821642

A

G

exonic

De novo

synonymous SNV

NM_001164766
NM_006885

c.T7791C
c.T10533C

p.G2597G
p.G3511G

-

7.0E-4

Trost2022 G

ZFHX3

1-0779-003

chr16:
72943646-72943646

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

MSSNG00203-003

chr16:
72969757-72969757

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

7-0410-003

chr16:
72936577-72936577

A

T

intronic

De novo

-

Trost2022 G

ZFHX3

MSSNG00203-003

chr16:
72941847-72941847

T

G

intronic

De novo

-

Trost2022 G

ZFHX3

MT_155.3

chr16:
72923900-72923900

C

A

intronic

De novo

-

Trost2022 G

ZFHX3

AU2218301

chr16:
72934606-72934606

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

MT_170.3

chr16:
72885458-72885458

A

T

intronic

De novo

-

Trost2022 G

ZFHX3

AU4183301

chr16:
73022110-73022110

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFHX3

REACH000754

chr16:
72921860-72921860

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

MT_58.3

chr16:
73029578-73029578

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

2-1381-003

chr16:
72845633-72845633

T

C

exonic

De novo

nonsynonymous SNV

NM_001164766
NM_006885

c.A965G
c.A3707G

p.N322S
p.N1236S

17.51

2.479E-5

Yuen2017 G
Zhou2022 GE

ZFHX3

4-0034-003

chr16:
73047399-73047399

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

MT_15.3

chr16:
73009584-73009584

G

C

intronic

De novo

-

Trost2022 G

ZFHX3

MSSNG00183-003

chr16:
73011180-73011180

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

2-1751-003

chr16:
72991219-72991219

C

T

intronic

De novo

-

Trost2022 G

ZFHX3

SP0087570

chr16:
72992629-72992629

C

T

exonic

De novo

synonymous SNV

NM_006885

c.G1416A

p.A472A

-

2.498E-5

Trost2022 G

ZFHX3

14-547

chr16:
72974444-72974444

T

G

intronic

De novo

-

Trost2022 G

ZFHX3

1-1100-003

chr16:
72985604-72985604

G

T

intronic

De novo

-

Trost2022 G

ZFHX3

2-0012-003

chr16:
73096144-73096144

C

T

intergenic

De novo

-

Yuen2017 G

ZFHX3

SP0078104

chr16:
72992541-72992541

C

T

exonic

De novo

nonsynonymous SNV

NM_006885

c.G1504A

p.E502K

8.243

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFHX3

MSSNG00006-004

chr16:
73092260-73092260

G

GGGC

intronic

De novo

-

Trost2022 G

ZFHX3

SP0011390

chr16:
72991763-72991763

C

G

exonic

De novo

nonsynonymous SNV

NM_006885

c.G2282C

p.G761A

12.55

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFHX3

MSSNG00101-004

chr16:
73079720-73079720

A

G

intronic

De novo

-

Trost2022 G

ZFHX3

3-0031-000

chr16:
73089832-73089832

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

AU2168301

chr16:
73066493-73066493

G

A

intronic

De novo

-

Trost2022 G

ZFHX3

7-0130-003

chr16:
73075291-73075294

CGTT

AAAAAAAAAAAAA

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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