Variant Results

or

Results for "CTTNBP2"

Variant Events: 123

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

CTTNBP2

M32001

chr7:
117385943-117385947

TCTCA

T

exonic

De novo

frameshift deletion

NM_033427

c.3473_3476del

p.V1158fs

-

Guo2018 T

CTTNBP2

mAGRE2644

chr7:
117364788-117364788

T

C

splicing

Paternal

splicing

13.02

-

Cirnigliaro2023 G

CTTNBP2

mAGRE2643

chr7:
117364788-117364788

T

C

splicing

Paternal

splicing

13.02

-

Cirnigliaro2023 G

CTTNBP2

mAGRE1048

chr7:
117361132-117361134

CAG

C

exonic

Maternal

frameshift deletion

NM_033427

c.4498_4499del

p.L1500fs

-

Cirnigliaro2023 G

CTTNBP2

2-1511-003

chr7:
117550169-117550188

AAAATAAATAAATAAATAAA

AAAATAAATAAATAAA

intergenic

De novo

-

Yuen2017 G

CTTNBP2

Stessman2017:ASD-1627

chr7:
117385986-117385986

T

G

splicing

Inherited

splicing

21.7

-

Stessman2017 T

CTTNBP2

M16163

chr7:
117368308-117368308

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C3890T

p.A1297V

0.11

2.496E-5

Guo2018 T

CTTNBP2

M18461

chr7:
117420501-117420501

T

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A2517T

p.K839N

14.49

-

Guo2018 T

CTTNBP2

M19799

chr7:
117400660-117400660

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C3001T

p.R1001C

23.5

7.415E-5

Guo2018 T

CTTNBP2

PN400367

chr7:
117358150-117358150

T

TAAATCATCCCTGGAATCAG

exonic

Unknown

stopgain

NM_033427

c.4667_4668insCTGATTCCAGGGATGATTT

p.L1556_R1557delinsFX

-

Leblond2019 E

CTTNBP2

AU3053301

chr7:
117410679-117410679

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTTNBP2

M12513

chr7:
117451018-117451018

T

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A215G

p.Q72R

26.9

8.265E-6

Guo2018 T

CTTNBP2

M08428

chr7:
117432154-117432154

T

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A1096T

p.I366F

5.741

1.647E-5

Guo2018 T

CTTNBP2

11030.p1

chr7:
117662307-117662308

GA

G

intergenic

De novo

-

Werling2018 G

CTTNBP2

M12382

chr7:
117431493-117431493

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C1757T

p.S586L

13.32

8.239E-6

Guo2018 T

CTTNBP2

M15081

chr7:
117420581-117420581

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C2437T

p.P813S

21.8

8.254E-6

Guo2018 T

CTTNBP2

M31980

chr7:
117417690-117417692

CAA

C

exonic

De novo

frameshift deletion

NM_033427

c.2651_2652del

p.F884fs

-

Guo2018 T

CTTNBP2

M15212

chr7:
117431731-117431731

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C1519T

p.P507S

8.114

-

Guo2018 T

CTTNBP2

M27823

chr7:
117431557-117431557

C

T

exonic

Maternal

nonsynonymous SNV

NM_033427

c.G1693A

p.V565I

13.87

-

Guo2018 T

CTTNBP2

HN0016.p1

chr7:
117417690-117417692

CAA

C

exonic

Maternal

frameshift deletion

NM_033427

c.2651_2652del

p.F884fs

-

Guo2018 T

CTTNBP2

AU4483301

chr7:
117455993-117455993

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTTNBP2

13918.p1

chr7:
117652220-117652220

G

GA

intergenic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

CTTNBP2

AU4173301

chr7:
117763443-117763443

A

G

intergenic

De novo

-

Yuen2017 G

CTTNBP2

GX0131.p1

chr7:
117420557-117420557

C

A

exonic

Paternal

stopgain

NM_033427

c.G2461T

p.G821X

38.0

-

Guo2018 T

CTTNBP2

GX0225.p1

chr7:
117351768-117351769

AC

A

exonic

Paternal

frameshift deletion

NM_033427

c.4814delG

p.G1605fs

-

Guo2018 T

CTTNBP2

AU050604

chr7:
117816835-117816835

T

C

intergenic

De novo

-

Yuen2017 G

CTTNBP2

GX0233.p1

chr7:
117420573-117420573

G

C

exonic

Paternal

stopgain

NM_033427

c.C2445G

p.Y815X

36.0

-

Guo2018 T

CTTNBP2

GX0187.p1

chr7:
117361174-117361175

AT

A

exonic

Paternal

frameshift deletion

NM_033427

c.4457delA

p.N1486fs

-

Guo2018 T

CTTNBP2

SSC06432

chr7:
117423007-117423009

TCA

T

exonic

De novo

frameshift deletion

NM_033427

c.2279_2280del

p.V760fs

-

Fu2022 E
Trost2022 G

CTTNBP2

2-1581-003

chr7:
117584489-117584489

C

T

intergenic

De novo

-

Yuen2017 G

CTTNBP2

1-0330-003

chr7:
117646455-117646456

TG

T

intergenic

De novo

-

Yuen2017 G

CTTNBP2

M08434

chr7:
117385918-117385918

T

C

exonic

Unknown

nonsynonymous SNV

NM_033427

c.A3502G

p.K1168E

22.6

-

Guo2018 T

CTTNBP2

M19802

chr7:
117422931-117422931

G

A

exonic

Paternal, Unknown

nonsynonymous SNV

NM_033427

c.C2357T

p.A786V

25.4

-

Guo2018 T
Stessman2017 T

CTTNBP2

GX0054.p1

chr7:
117407211-117407211

C

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G2798T

p.C933F

22.6

-

Guo2018 T

CTTNBP2

JS0056.p1

chr7:
117431814-117431814

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G1436A

p.R479H

20.8

9.884E-5

Guo2018 T

CTTNBP2

M30901

chr7:
117400525-117400525

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G3136A

p.G1046S

18.49

5.771E-5

Guo2018 T

CTTNBP2

HEN0251.p1

chr7:
117431443-117431443

G

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C1807G

p.L603V

2.019

-

Guo2018 T

CTTNBP2

SX0012.p1

chr7:
117368250-117368250

A

AC

exonic

Maternal

frameshift insertion

NM_033427

c.3947dupG

p.R1316fs

-

4.123E-5

Guo2018 T

CTTNBP2

M30790

chr7:
117432661-117432661

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G589A

p.A197T

4.956

2.471E-5

Guo2018 T

CTTNBP2

HN0137.p1

chr7:
117432661-117432661

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G589A

p.A197T

4.956

2.471E-5

Guo2018 T

CTTNBP2

2-1131-003

chr7:
117548211-117548211

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTTNBP2

AU3517301

chr7:
117607025-117607035

GACACACACAC

GACACACAC

intergenic

De novo

-

Yuen2017 G

CTTNBP2

M32940

chr7:
117417690-117417692

CAA

C

exonic

Maternal

frameshift deletion

NM_033427

c.2651_2652del

p.F884fs

-

Guo2018 T

CTTNBP2

M32047

chr7:
117431668-117431668

T

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.A1582G

p.S528G

8.646

-

Guo2018 T

CTTNBP2

SD0003.p1

chr7:
117432661-117432661

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G589A

p.A197T

4.956

2.471E-5

Guo2018 T

CTTNBP2

AU1067302

chr7:
117501328-117501328

G

A

exonic

Unknown

nonsynonymous SNV

NM_033427

c.C124T

p.R42W

23.6

1.0E-4

Stessman2017 T

CTTNBP2

HN0079.p1

chr7:
117368165-117368165

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G4033A

p.G1345R

23.1

8.292E-6

Guo2018 T

CTTNBP2

M23107

chr7:
117368165-117368165

C

T

exonic

Paternal, Unknown

nonsynonymous SNV

NM_033427

c.G4033A

p.G1345R

23.1

8.292E-6

Guo2018 T
Stessman2017 T

CTTNBP2

GX0120.p1

chr7:
117364646-117364646

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C4402T

p.R1468C

14.43

5.774E-5

Guo2018 T

CTTNBP2

HN0099.p1

chr7:
117385890-117385890

C

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G3530T

p.S1177I

15.48

8.262E-5

Guo2018 T

CTTNBP2

GX0425.p1

chr7:
117368299-117368299

G

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C3899G

p.P1300R

18.17

1.0E-4

Guo2018 T

CTTNBP2

2-0208-003

chr7:
117599446-117599446

C

G

intergenic

De novo

-

Yuen2017 G

CTTNBP2

HEN0307.p1

chr7:
117368250-117368250

A

AC

exonic

Maternal

frameshift insertion

NM_033427

c.3947dupG

p.R1316fs

-

4.123E-5

Guo2018 T

CTTNBP2

AU3451301

chr7:
117522541-117522541

A

C

intergenic

De novo

-

Yuen2017 G

CTTNBP2

iHART2643

chr7:
117364788-117364788

T

C

splicing

Paternal

splicing

13.02

-

Ruzzo2019 G

CTTNBP2

iHART1048

chr7:
117361132-117361134

CAG

C

exonic

Maternal

frameshift deletion

NM_033427

c.4498_4499del

p.L1500fs

-

Ruzzo2019 G

CTTNBP2

iHART2644

chr7:
117364788-117364788

T

C

splicing

Paternal

splicing

13.02

-

Ruzzo2019 G

CTTNBP2

AU072505

chr7:
117505456-117505456

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTTNBP2

2-0129-005

chr7:
117508598-117508598

C

T

intronic

De novo

-

Yuen2017 G

CTTNBP2

13070.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_033427
NM_033427

c.2279_2280del
c.2278_2279del

p.V760fs
p.V760fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

CTTNBP2

AU1446301

chr7:
117386142-117386142

A

C

exonic

Maternal

stopgain

NM_033427

c.T3360G

p.Y1120X

37.0

-

Stessman2017 T

CTTNBP2

SP0059686

chr7:
117386100-117386100

G

T

exonic

De novo

nonsynonymous SNV

NM_033427

c.C3402A

p.D1134E

13.73

-

Fu2022 E
Zhou2022 GE

CTTNBP2

SP0048906

chr7:
117364645-117364645

C

A

exonic

De novo

nonsynonymous SNV

NM_033427

c.G4403T

p.R1468L

9.003

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CTTNBP2

5-0018-003

chr7:
117492914-117492914

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTTNBP2

M20562

chr7:
117368228-117368228

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C3970T

p.R1324C

32.0

4.123E-5

Wang2016 T

CTTNBP2

2-1693-003

chr7:
117581222-117581222

G

A

intergenic

De novo

-

Yuen2017 G

CTTNBP2

211-5657-3

chr7:
117375031-117375031

C

T

exonic

Unknown

nonsynonymous SNV

NM_033427

c.G3812A

p.R1271Q

33.0

1.653E-5

Stessman2017 T

CTTNBP2

GX0184.p1

chr7:
117368165-117368165

C

T

exonic

Maternal

nonsynonymous SNV

NM_033427

c.G4033A

p.G1345R

23.1

8.292E-6

Guo2018 T

CTTNBP2

GX0206.p1

chr7:
117359610-117359610

A

G

exonic

Maternal

nonsynonymous SNV

NM_033427

c.T4592C

p.V1531A

18.06

-

Guo2018 T

CTTNBP2

GX0094.p1

chr7:
117431485-117431485

A

T

exonic

Maternal

nonsynonymous SNV

NM_033427

c.T1765A

p.S589T

12.29

8.239E-6

Guo2018 T

CTTNBP2

GX0038.p1

chr7:
117385890-117385890

C

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.G3530T

p.S1177I

15.48

8.262E-5

Guo2018 T

CTTNBP2

M08781

chr7:
117361145-117361145

C

T

exonic

De novo

nonsynonymous SNV

NM_033427

c.G4487A

p.R1496K

11.2

-

Guo2018 T

CTTNBP2

GX0318.p1

chr7:
117358153-117358153

A

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.T4665G

p.D1555E

15.91

3.495E-5

Guo2018 T

CTTNBP2

GX0448.p1

chr7:
117432327-117432327

T

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A923G

p.Q308R

17.65

-

Guo2018 T

CTTNBP2

HN0093.p1

chr7:
117431485-117431485

A

T

exonic

Maternal

nonsynonymous SNV

NM_033427

c.T1765A

p.S589T

12.29

8.239E-6

Guo2018 T

CTTNBP2

GX0232.p1

chr7:
117432593-117432593

T

G

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A657C

p.R219S

15.05

8.258E-6

Guo2018 T

CTTNBP2

AU2215302

chr7:
117717379-117717379

T

C

intergenic

De novo

-

Yuen2017 G

CTTNBP2

HN0051.p1

chr7:
117432411-117432411

G

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C839G

p.S280C

15.07

4.942E-5

Guo2018 T

CTTNBP2

2-1744-003

chr7:
117431806-117431806

G

T

exonic

De novo

nonsynonymous SNV

NM_033427

c.C1444A

p.L482I

13.57

-

Trost2022 G
Zhou2022 GE

CTTNBP2

1-0835-003

chr7:
117383123-117383123

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTTNBP2

03C14363

chr7:
117361133-117361135

AGA

A

exonic

Maternal

frameshift deletion

NM_033427

c.4497_4498del

p.S1499fs

-

Stessman2017 T

CTTNBP2

J7S7Z

chr7:
117365294-117365296

CAC

C

exonic

Inherited

frameshift deletion

NM_033427

c.4071_4072del

p.L1357fs

-

Stessman2017 T

CTTNBP2

M23828

chr7:
117368228-117368228

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C3970T

p.R1324C

32.0

4.123E-5

Wang2016 T

CTTNBP2

P4N4W

chr7:
117358155-117358155

C

A

exonic

Unknown

nonsynonymous SNV

NM_033427

c.G4663T

p.D1555Y

22.0

5.268E-5

Stessman2017 T

CTTNBP2

REACH000202

chr7:
117452788-117452788

G

T

intronic

De novo

-

Trost2022 G

CTTNBP2

MSSNG00359-003

chr7:
117459365-117459367

CAG

C

intronic

De novo

-

Trost2022 G

CTTNBP2

1-1186-003

chr7:
117373863-117373863

C

T

intronic

De novo

-

Trost2022 G

CTTNBP2

5-2015-003

chr7:
117437803-117437803

C

T

intronic

De novo

-

Trost2022 G

CTTNBP2

2-1335-004

chr7:
117575408-117575408

T

G

intergenic

De novo

-

Yuen2017 G

CTTNBP2

1-1180-003

chr7:
117368771-117368771

C

G

intronic

De novo

-

Trost2022 G

CTTNBP2

MT_63.3

chr7:
117492814-117492814

T

G

intronic

De novo

-

Trost2022 G

CTTNBP2

SSC09875

chr7:
117652220-117652220

G

GA

intergenic

De novo

-

Trost2022 G

CTTNBP2

M27803

chr7:
117420520-117420520

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G2498A

p.G833E

23.0

-

Guo2018 T

CTTNBP2

M15123

chr7:
117397991-117397991

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C3206T

p.A1069V

5.302

3.549E-5

Guo2018 T

CTTNBP2

M19563

chr7:
117431239-117431239

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G2011A

p.V671I

11.26

2.473E-5

Guo2018 T

CTTNBP2

M20638

chr7:
117423010-117423010

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G2278A

p.V760M

22.0

-

Guo2018 T

CTTNBP2

M12468

chr7:
117375088-117375088

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C3755T

p.A1252V

19.59

-

Guo2018 T

CTTNBP2

M08674

chr7:
117361145-117361145

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G4487A

p.R1496K

11.2

-

Guo2018 T

CTTNBP2

M30841

chr7:
117396685-117396685

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C3272T

p.P1091L

11.38

-

Guo2018 T

CTTNBP2

M08494

chr7:
117386114-117386114

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G3388A

p.G1130R

26.9

-

Guo2018 T

CTTNBP2

14015.p1

chr7:
117752577-117752577

C

G

intergenic

De novo

-

Turner2016 G

CTTNBP2

M20709

chr7:
117432183-117432183

A

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.T1067A

p.I356N

9.516

-

Guo2018 T

CTTNBP2

M23062

chr7:
117432090-117432090

C

T

exonic

Paternal

nonsynonymous SNV

NM_033427

c.G1160A

p.S387N

12.61

-

Guo2018 T

CTTNBP2

M16097

chr7:
117450932-117450932

T

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.A301G

p.K101E

17.97

2.472E-5

Guo2018 T

CTTNBP2

M26781

chr7:
117432453-117432453

A

G

exonic

Paternal

nonsynonymous SNV

NM_033427

c.T797C

p.I266T

12.16

2.0E-4

Guo2018 T

CTTNBP2

M13281

chr7:
117431979-117431979

G

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C1271G

p.P424R

6.113

8.236E-6

Guo2018 T

CTTNBP2

M15021

chr7:
117431352-117431352

G

A

exonic

Paternal

nonsynonymous SNV

NM_033427

c.C1898T

p.T633M

20.4

-

Guo2018 T

CTTNBP2

M08976

chr7:
117432061-117432061

T

C

exonic

Paternal

nonsynonymous SNV

NM_033427

c.A1189G

p.S397G

0.89

-

Guo2018 T

CTTNBP2

M12414

chr7:
117431979-117431979

G

C/G

exonic

Paternal

-

Guo2018 T

CTTNBP2

217-14409-5180

chr7:
117431644-117431644

G

A

exonic

Unknown

stopgain

NM_033427

c.C1606T

p.R536X

16.37

-

Stessman2017 T

CTTNBP2

M17505

chr7:
117450932-117450932

T

C/T

exonic

Paternal

-

Guo2018 T

CTTNBP2

320877

chr7:
117420489-117420493

ACTCA

A

splicing

Inherited

splicing

-

Stessman2017 T

CTTNBP2

07C65257

chr7:
117359623-117359623

C

T

exonic

Unknown

nonsynonymous SNV

NM_033427

c.G4579A

p.E1527K

22.5

6.593E-5

Stessman2017 T

CTTNBP2

ER47534

chr7:
117417591-117417591

G

A

exonic

De novo

nonsynonymous SNV

NM_033427

c.C2752T

p.H918Y

26.9

-

O’Roak2014 T

CTTNBP2

1-0051-005

chr7:
117596117-117596117

A

C

intergenic

De novo

-

Yuen2017 G

CTTNBP2

HEN0099.p1

chr7:
117368147-117368147

C

T

exonic

Maternal

nonsynonymous SNV

NM_033427

c.G4051A

p.V1351M

24.0

-

Guo2018 T

CTTNBP2

HEN0273.p1

chr7:
117365112-117365112

T

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A4255G

p.R1419G

18.62

2.472E-5

Guo2018 T

CTTNBP2

HN0190.p1

chr7:
117432453-117432453

A

G

exonic

Maternal

nonsynonymous SNV

NM_033427

c.T797C

p.I266T

12.16

2.0E-4

Guo2018 T

CTTNBP2

HEN0079.p1

chr7:
117432154-117432154

T

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.A1096T

p.I366F

5.741

1.647E-5

Guo2018 T

CTTNBP2

HEN0211.p1

chr7:
117397991-117397991

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C3206T

p.A1069V

5.302

3.549E-5

Guo2018 T

CTTNBP2

SX0019.p1

chr7:
117397982-117397982

G

A

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C3215T

p.P1072L

16.31

1.779E-5

Guo2018 T

CTTNBP2

M32724

chr7:
117431853-117431853

G

A/G

exonic

Maternal

-

Guo2018 T

CTTNBP2

HEN0137.p1

chr7:
117431785-117431785

G

C

exonic

Maternal

nonsynonymous SNV

NM_033427

c.C1465G

p.R489G

17.41

-

Guo2018 T

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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