Variant Results

or

Results for "ANK3"

Variant Events: 109

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

ANK3

7-0024-005

chr10:
61996330-61996330

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

AU2117302

chr10:
62027323-62027323

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

M08118

chr10:
61965608-61965608

C

T

exonic

Paternal

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.G1184A
c.G1235A
c.G1217A

p.R395Q
p.R412Q
p.R406Q

34.0

-

Guo2018 T
Wang2016 T

ANK3

AU3702307

chr10:
61983852-61983852

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

AU2793302

chr10:
62373775-62373775

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

3-0448-000

chr10:
62448998-62448998

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ANK3

Shi2013:1

chr10:
61829571-61829571

C

T

exonic

Inherited

nonsynonymous SNV

NM_020987

c.G11068A

p.G3690R

12.53

-

Shi2013 G

ANK3

M19816

chr10:
61846521-61846521

G

A

exonic

Paternal

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.C1064T
c.C3662T
c.C3644T
c.C3665T

p.P355L
p.P1221L
p.P1215L
p.P1222L

34.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

ANK3

4-0062-003

chr10:
61788354-61788356

CTA

ATT

UTR3

De novo

-

Trost2022 G

ANK3

AU2035301

chr10:
61797747-61797747

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

1-0196-005

chr10:
62395255-62395255

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

2-0223-004

chr10:
62144730-62144751

GCCTGGATCCCCATCAGAGCTT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

AU2035301

chr10:
61801749-61801749

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

11540_p1

chr10:
61833827-61833827

A

G

exonic

De novo

nonsynonymous SNV

NM_020987

c.T6812C

p.M2271T

13.11

8.24E-6

Fu2022 E

ANK3

2-0273-003

chr10:
61888350-61888350

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

AU3907302

chr10:
62449780-62449780

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

2-0112-005

chr10:
61987999-61987999

T

C

intronic

De novo

-

Trost2022 G

ANK3

1-0541-004

chr10:
62000380-62000380

C

T

intronic

De novo

-

Trost2022 G

ANK3

SP0052091

chr10:
61932636-61932636

T

G

intronic

De novo

-

Trost2022 G

ANK3

2-1192-003

chr10:
61983484-61983485

CA

TT

intronic

De novo

-

Trost2022 G

ANK3

REACH000141

chr10:
61917693-61917693

G

A

intronic

De novo

-

Trost2022 G

ANK3

AU055603

chr10:
61923063-61923063

G

A

intronic

De novo

-

Trost2022 G

ANK3

7-0351-003

chr10:
61817350-61817350

C

T

intronic

De novo

-

Trost2022 G

ANK3

1-1133-003

chr10:
61897853-61897853

C

T

intronic

De novo

-

Trost2022 G

ANK3

MSSNG00018-003

chr10:
62147976-62147976

A

G

intronic

De novo

-

Trost2022 G

ANK3

MSSNG00212-003

chr10:
62174555-62174555

G

A

intronic

De novo

-

Trost2022 G

ANK3

AU008505

chr10:
61842864-61842864

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

10-0008-003

chr10:
62124833-62124844

TGTATGGTGCCT

CAAAAAAAAAAAAAA

intronic

De novo

-

Trost2022 G

ANK3

REACH000627

chr10:
62145790-62145790

G

A

intronic

De novo

-

Trost2022 G

ANK3

HN0112.p1

chr10:
61900109-61900109

C

T

splicing

Paternal

splicing

19.56

8.244E-6

Guo2018 T

ANK3

2-1775-003

chr10:
62057386-62057388

CTT

C

intronic

De novo

-

Trost2022 G

ANK3

2-1795-003

chr10:
62079863-62079863

G

A

intronic

De novo

-

Trost2022 G

ANK3

1-0541-004

chr10:
62000386-62000387

GT

CTTGC

intronic

De novo

-

Trost2022 G

ANK3

SP0069459

chr10:
62038533-62038533

T

G

exonic

De novo

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.A362C
c.A413C
c.A395C

p.Q121P
p.Q138P
p.Q132P

23.6

-

Trost2022 G

ANK3

4-0023-003

chr10:
62311642-62311642

G

A

intronic

De novo

-

Trost2022 G

ANK3

4-0077-003

chr10:
62321141-62321142

TT

AA

intronic

De novo

-

Trost2022 G

ANK3

1-1010-003

chr10:
62282260-62282260

G

A

intronic

De novo

-

Trost2022 G

ANK3

3-0731-001A

chr10:
62284939-62284939

A

C

intronic

De novo

-

Trost2022 G

ANK3

4-0062-003

chr10:
62215741-62215742

GT

TA

intronic

De novo

-

Trost2022 G

ANK3

2-1097-003

chr10:
62279481-62279482

GC

AG

intronic

De novo

-

Trost2022 G

ANK3

ASC_CA_81_A

chr10:
61932078-61932078

G

C

exonic

De novo

synonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C2415G
c.C2466G
c.C2448G

p.T805T
p.T822T
p.T816T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ANK3

MSSNG00241-003

chr10:
62190299-62190299

G

T

intronic

De novo

-

Trost2022 G

ANK3

7-0420-003

chr10:
62210014-62210014

C

T

intronic

De novo

-

Trost2022 G

ANK3

2-1358-003

chr10:
61802590-61802590

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

SP0132152

chr10:
62039364-62039364

G

A

exonic

De novo

stopgain

NM_001204404
NM_020987
NM_001204403

c.C97T
c.C148T
c.C130T

p.R33X
p.R50X
p.R44X

37.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ANK3

MT_68.3

chr10:
62466891-62466891

G

C

intronic

De novo

-

Trost2022 G

ANK3

AU1687302

chr10:
62473696-62473696

T

A

intronic

De novo

-

Trost2022 G

ANK3

Codina-Sola2015:ASD_14

chr10:
61815514-61815514

G

A

exonic

Maternal

nonsynonymous SNV

NM_001149
NM_001204403
NM_001204404
NM_020987

c.C2839T
c.C5419T
c.C5440T
c.C12967T

p.P947S
p.P1807S
p.P1814S
p.P4323S

24.9

-

Codina-Sola2015 E

ANK3

1-0611-003

chr10:
62417969-62417969

G

T

intronic

De novo

-

Trost2022 G

ANK3

7-0352-003

chr10:
62424476-62424476

C

T

intronic

De novo

-

Trost2022 G

ANK3

5-1001-003

chr10:
62364628-62364628

C

T

intronic

De novo

-

Trost2022 G

ANK3

3-0783-000

chr10:
62395907-62395907

C

T

intronic

De novo

-

Trost2022 G

ANK3

2-1373-003

chr10:
62019990-62019990

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANK3

M23067

chr10:
61894114-61894114

G

A

exonic

Unknown

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.C158T
c.C2756T
c.C2738T
c.C2759T

p.S53L
p.S919L
p.S913L
p.S920L

21.6

1.686E-5

Stessman2017 T

ANK3

AU2495302

chr10:
62322169-62322169

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

Shi2013:2

chr10:
61829571-61829571

C

T

exonic

Inherited

nonsynonymous SNV

NM_020987

c.G11068A

p.G3690R

12.53

-

Shi2013 G

ANK3

AU4093304

chr10:
62097145-62097145

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

14016.p1

chr10:
61833372-61833372

G

A

exonic

De novo

nonsynonymous SNV

NM_020987

c.C7267T

p.R2423C

18.17

8.26E-6

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

ANK3

11540.p1

chr10:
61833827-61833827

A

G

exonic

De novo

nonsynonymous SNV

NM_020987

c.T6812C

p.M2271T

13.11

8.24E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ANK3

11736.p1

chr10:
61967911-61967911

G

A

exonic

De novo

synonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C1026T
c.C1077T
c.C1059T

p.P342P
p.P359P
p.P353P

-

4.946E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ANK3

AU3645301

chr10:
62093639-62093639

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

68648

chr10:
61967911-61967911

G

A

exonic

De novo

synonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C1026T
c.C1077T
c.C1059T

p.P342P
p.P359P
p.P353P

-

4.946E-5

Fu2022 E
Trost2022 G

ANK3

2-1329-003

chr10:
62164746-62164746

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANK3

36002

chr10:
61833372-61833372

G

A

exonic

De novo

nonsynonymous SNV

NM_020987

c.C7267T

p.R2423C

18.17

8.26E-6

Fu2022 E
Trost2022 G

ANK3

Codina-Sola2015:ASD_29

chr10:
61829729-61829729

T

C

exonic

Paternal

nonsynonymous SNV

NM_020987

c.A10910G

p.H3637R

16.58

-

Codina-Sola2015 E

ANK3

1-0285-003

chr10:
62192147-62192147

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

M23688

chr10:
61932868-61932868

G

A

exonic

Maternal

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C2210T
c.C2261T
c.C2243T

p.A737V
p.A754V
p.A748V

36.0

9.906E-5

Wang2016 T

ANK3

M15169

chr10:
61955953-61955953

C

G

exonic

Maternal

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.G1786C
c.G1837C
c.G1819C

p.V596L
p.V613L
p.V607L

34.0

-

Guo2018 T
Wang2016 T

ANK3

1-0715-003

chr10:
62345673-62345673

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

211-5571-3

chr10:
61874029-61874029

C

G

exonic

Unknown

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.G304C
c.G2902C
c.G2884C
c.G2905C

p.D102H
p.D968H
p.D962H
p.D969H

29.3

-

Stessman2017 T

ANK3

AU056204

chr10:
62350770-62350770

T

C

intronic

De novo

-

Yuen2017 G

ANK3

Ishay2021:3

chr10:
61834098-61834098

C

A

exonic

Inherited

nonsynonymous SNV

NM_020987

c.G6541T

p.G2181W

17.76

6.0E-4

Ishay2021 E

ANK3

Ishay2021:2

chr10:
61833414-61833414

A

G

exonic

Inherited

nonsynonymous SNV

NM_020987

c.T7225C

p.S2409P

18.6

0.0047

Ishay2021 E

ANK3

A6

chr10:
61949919-61949919

G

A

intronic

De novo

-

Wu2018 G

ANK3

AU0636303

chr10:
62307649-62307649

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

212-21052-1

chr10:
61926617-61926617

G

A

exonic

Unknown

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C2465T
c.C2516T
c.C2498T

p.T822M
p.T839M
p.T833M

21.0

5.782E-5

Stessman2017 T

ANK3

D2P3N

chr10:
61868693-61868693

C

A

exonic

Unknown

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.G470T
c.G3068T
c.G3050T
c.G3071T

p.R157L
p.R1023L
p.R1017L
p.R1024L

28.7

-

Stessman2017 T

ANK3

7-0389-003

chr10:
61832966-61832966

C

T

exonic

De novo

nonsynonymous SNV

NM_020987

c.G7673A

p.R2558H

14.63

4.122E-5

Trost2022 G
Zhou2022 GE

ANK3

AU4056301

chr10:
62021744-62021744

T

C

intronic

De novo

-

8.743E-6

Trost2022 G
Yuen2017 G

ANK3

AU2035302

chr10:
61797747-61797747

G

C

intronic

De novo

-

Yuen2017 G

ANK3

AU2035302

chr10:
61801749-61801749

A

C

intronic

De novo

-

Yuen2017 G

ANK3

2-1251-003

chr10:
62258731-62258731

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

2-0116-005

chr10:
62057498-62057498

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

03C15852

chr10:
61932674-61932674

G

A

exonic

Inherited

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C2315T
c.C2366T
c.C2348T

p.P772L
p.P789L
p.P783L

32.0

8.282E-6

Stessman2017 T

ANK3

09C83751

chr10:
61932806-61932806

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ANK3

SP0014839

chr10:
61994492-61994492

A

C

exonic

De novo

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.T800G
c.T851G
c.T833G

p.V267G
p.V284G
p.V278G

24.6

-

Trost2022 G
Zhou2022 GE

ANK3

J2Y7X

chr10:
61846455-61846455

C

T

exonic

Inherited

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.G1130A
c.G3728A
c.G3710A
c.G3731A

p.R377H
p.R1243H
p.R1237H
p.R1244H

35.0

8.256E-6

Stessman2017 T

ANK3

M13309

chr10:
61932868-61932868

G

A

exonic

Paternal

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C2210T
c.C2261T
c.C2243T

p.A737V
p.A754V
p.A748V

36.0

9.906E-5

Wang2016 T

ANK3

1-0252-003

chr10:
61985014-61985014

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

M31974

chr10:
61959930-61959930

C

T

exonic

Unknown

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.G1397A
c.G1448A
c.G1430A

p.R466Q
p.R483Q
p.R477Q

35.0

-

Guo2018 T

ANK3

Q7E4F

chr10:
61959930-61959930

C

T

exonic

Inherited

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.G1397A
c.G1448A
c.G1430A

p.R466Q
p.R483Q
p.R477Q

35.0

-

Stessman2017 T

ANK3

T8W2W

chr10:
61843315-61843315

C

T

exonic

Unknown

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.G1537A
c.G4135A
c.G4117A
c.G4138A

p.G513R
p.G1379R
p.G1373R
p.G1380R

17.6

1.656E-5

Stessman2017 T

ANK3

03C16650

chr10:
61956298-61956299

TC

AT

exonic

Unknown

nonframeshift substitution

NM_001204404
NM_020987
NM_001204403

c.1723_1724AT
c.1774_1775AT
c.1756_1757AT

N/A
N/A
N/A

-

Stessman2017 T

ANK3

GX0258.p1

chr10:
61846521-61846521

G

A

exonic

Paternal

nonsynonymous SNV

NM_001149
NM_020987
NM_001204403
NM_001204404

c.C1064T
c.C3662T
c.C3644T
c.C3665T

p.P355L
p.P1221L
p.P1215L
p.P1222L

34.0

-

Guo2018 T

ANK3

M26870

chr10:
62374958-62374958

G

A

exonic

Paternal

stopgain

NM_001204403

c.C82T

p.R28X

37.0

-

Guo2018 T
Wang2016 T

ANK3

2-1425-003

chr10:
62418655-62418655

A

AAGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

AU003405

chr10:
62246669-62246669

T

C

intronic

De novo

-

Yuen2017 G

ANK3

1-0385-003

chr10:
62412851-62412851

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

SP0081909

chr10:
61833191-61833191

G

A

exonic

De novo

nonsynonymous SNV

NM_020987

c.C7448T

p.S2483L

15.15

4.954E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ANK3

SP0094069

chr10:
61958112-61958112

A

C

exonic

De novo

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.T1624G
c.T1675G
c.T1657G

p.S542A
p.S559A
p.S553A

2.719

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ANK3

AU3720302

chr10:
61962985-61962985

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

Chen2017:15

chr10:
62023648-62023648

G

A

exonic

De novo

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C593T
c.C644T
c.C626T

p.T198M
p.T215M
p.T209M

26.4

8.241E-6

Chen2017 E

ANK3

SP0023444

chr10:
62029959-62029959

G

A

exonic

De novo

nonsynonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C392T
c.C443T
c.C425T

p.A131V
p.A148V
p.A142V

32.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ANK3

2-0223-003

chr10:
62144730-62144751

GCCTGGATCCCCATCAGAGCTT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

1-0627-003

chr10:
62188764-62188764

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

2-0122-003

chr10:
61934951-61934951

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANK3

Wang2023:544

chr10:
61831926-61831926

G

A

exonic

De novo

nonsynonymous SNV

NM_020987

c.C8713T

p.R2905C

13.09

8.302E-6

Wang2023 E

ANK3

Lim2017:68648

chr10:
61967911-61967911

G

A

exonic

De novo

synonymous SNV

NM_001204404
NM_020987
NM_001204403

c.C1026T
c.C1077T
c.C1059T

p.P342P
p.P359P
p.P353P

-

4.946E-5

Lim2017 E

ANK3

Lim2017:36002

chr10:
61833372-61833372

G

A

exonic

De novo

nonsynonymous SNV

NM_020987

c.C7267T

p.R2423C

18.17

8.26E-6

Lim2017 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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