Variant Results

or

Results for "ITPR1"

Variant Events: 129

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

ITPR1

AU4379301

chr3:
4841774-4841774

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

M10162

chr3:
4722295-4722295

G

A

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G2981A
c.G2954A
c.G2999A

p.R994Q
p.R985Q
p.R1000Q

16.57

-

Wang2016 T

ITPR1

1-0495-003

chr3:
4579033-4579033

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

921007046049-C

chr3:
4726624-4726624

G

A

intronic

De novo

-

Fu2022 E

ITPR1

2-0012-004

chr3:
4720084-4720084

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

2-1384-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

3D633

chr3:
4852903-4852903

A

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ITPR1

1-0261-004

chr3:
4928175-4928178

TAAC

T

intergenic

De novo

-

Yuen2017 G

ITPR1

M13392

chr3:
4562755-4562755

A

G

exonic

Unknown

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.A140G
c.A140G
c.A140G

p.N47S
p.N47S
p.N47S

10.06

9.206E-5

Wang2016 T

ITPR1

7-0167-003

chr3:
4649788-4649788

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

AU3861302

chr3:
4730286-4730286

C

T

exonic

De novo

synonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C3765T
c.C3738T
c.C3783T

p.N1255N
p.N1246N
p.N1261N

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ITPR1

AU3840302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

1-0214-003

chr3:
4851704-4851704

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

AU055603

chr3:
4613147-4613147

C

T

intronic

De novo

-

Trost2022 G

ITPR1

3-0031-000

chr3:
4616542-4616542

T

C

intronic

De novo

-

Trost2022 G

ITPR1

2-1815-003

chr3:
4565199-4565199

G

T

intronic

De novo

-

Trost2022 G

ITPR1

1-1063-003

chr3:
4593081-4593081

C

G

intronic

De novo

-

Trost2022 G

ITPR1

M12476

chr3:
4558240-4558240

C

T

exonic

Maternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.C65T
c.C65T
c.C65T

p.S22L
p.S22L
p.S22L

23.5

-

Guo2018 T
Wang2016 T

ITPR1

C9C2C_01

chr3:
4708603-4708603

A

G

intronic

De novo

-

Trost2022 G

ITPR1

2-1788-003

chr3:
4727694-4727694

G

C

intronic

De novo

-

Trost2022 G

ITPR1

M23717

chr3:
4741615-4741615

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C4481T
c.C4454T
c.C4499T

p.T1494M
p.T1485M
p.T1500M

27.6

-

Guo2018 T
Wang2016 T

ITPR1

4-0094-003

chr3:
4686874-4686874

A

G

intronic

De novo

-

Trost2022 G

ITPR1

SP0123804

chr3:
4703811-4703811

G

T

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1252T
c.G1252T
c.G1297T

p.V418F
p.V418F
p.V433F

20.3

-

Trost2022 G

ITPR1

1-1058-004

chr3:
4645323-4645323

A

G

intronic

De novo

-

Trost2022 G

ITPR1

1-0183-004

chr3:
4674990-4674990

C

T

intronic

De novo

-

Trost2022 G

ITPR1

AU1909304

chr3:
4650680-4650680

G

A

intronic

De novo

-

Yuen2017 G

ITPR1

SJD_22.3

chr3:
4633723-4633724

CA

C

intronic

De novo

-

Trost2022 G

ITPR1

MSSNG00421-009

chr3:
4639792-4639792

G

C

intronic

De novo

-

Trost2022 G

ITPR1

2-1238-003

chr3:
4834086-4834086

G

A

intronic

De novo

-

Trost2022 G

ITPR1

MSSNG00005-003

chr3:
4871133-4871133

T

C

intronic

De novo

-

Trost2022 G

ITPR1

AU017304

chr3:
4568644-4568644

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

3-0208-000

chr3:
4827834-4827834

T

C

intronic

De novo

-

Trost2022 G

ITPR1

7-0337-004

chr3:
4833999-4833999

A

C

intronic

De novo

-

Trost2022 G

ITPR1

1032

chr3:
4799010-4799010

G

A

intronic

De novo

-

Trost2022 G

ITPR1

MSSNG00401-003

chr3:
4826536-4826536

G

A

intronic

De novo

-

Trost2022 G

ITPR1

1-0441-003

chr3:
4905954-4905954

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ITPR1

MSSNG00258-005

chr3:
4763405-4763405

A

G

intronic

De novo

-

Trost2022 G

ITPR1

1-0838-003

chr3:
4776145-4776152

GATAGACA

G

intronic

De novo

-

Trost2022 G

ITPR1

1-0043-003

chr3:
4934703-4934703

G

C

intergenic

De novo

-

Yuen2017 G

ITPR1

M01663

chr3:
4716905-4716905

G

A/G

exonic

Maternal

-

Guo2018 T

ITPR1

M16165

chr3:
4562755-4562755

A

G

exonic

Paternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.A140G
c.A140G
c.A140G

p.N47S
p.N47S
p.N47S

10.06

9.206E-5

Wang2016 T

ITPR1

M08485

chr3:
4716819-4716819

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2621T
c.C2621T
c.C2666T

p.T874I
p.T874I
p.T889I

27.2

-

Guo2018 T

ITPR1

3-0469-000

chr3:
4740644-4740644

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

M08784

chr3:
4847913-4847913

A

T

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.A7045T
c.A7090T
c.A7189T

p.M2349L
p.M2364L
p.M2397L

3.903

-

Guo2018 T

ITPR1

M26820

chr3:
4842119-4842119

G

C

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G6753C
c.G6798C
c.G6897C

p.E2251D
p.E2266D
p.E2299D

9.64

1.656E-5

Guo2018 T

ITPR1

M19780

chr3:
4810254-4810254

G

A

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G5596A
c.G5641A
c.G5740A

p.A1866T
p.A1881T
p.A1914T

7.195

2.0E-4

Guo2018 T
Wang2016 T

ITPR1

M20272

chr3:
4704840-4704840

C

C/G

exonic

Maternal

-

Guo2018 T

ITPR1

M21706

chr3:
4836866-4836866

G

A

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G6737A
c.G6782A
c.G6881A

p.R2246Q
p.R2261Q
p.R2294Q

9.469

-

Guo2018 T
Wang2016 T

ITPR1

M04443

chr3:
4695565-4695565

C

C/T

exonic

Maternal

-

Guo2018 T

ITPR1

M12447

Complex Event; expand row to view variants

Maternal

frameshift insertion, nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272
NM_002222
NM_001099952
NM_001168272

c.7839_7840insGTGA
c.7884_7885insGTGA
c.7983_7984insGTGA
c.G7839T
c.G7884T
c.G7983T

p.K2613fs
p.K2628fs
p.K2661fs
p.K2613N
p.K2628N
p.K2661N

27.6

1.738E-5

Guo2018 T
Wang2016 T

ITPR1

1-0099-003

chr3:
4674209-4674209

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

AU4356302

chr3:
4631005-4631005

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

AU2951302

chr3:
4578191-4578191

T

C

intronic

De novo

-

Yuen2017 G

ITPR1

1721001

chr3:
4842228-4842228

C

T

exonic

De novo

stopgain

NM_002222
NM_001099952
NM_001168272

c.C6862T
c.C6907T
c.C7006T

p.R2288X
p.R2303X
p.R2336X

50.0

8.28E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITPR1

JS0059.p1

chr3:
4687341-4687341

G

A

exonic

Paternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.G784A
c.G784A
c.G784A

p.V262I
p.V262I
p.V262I

24.8

-

Guo2018 T

ITPR1

M8506

chr3:
4767233-4767233

C

A

exonic

Unknown

nonsynonymous SNV

NM_001168272

c.C5095A

p.P1699T

10.84

5.116E-5

Wang2016 T

ITPR1

M20736

chr3:
4776935-4776935

A

T

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.A5252T
c.A5297T
c.A5396T

p.N1751I
p.N1766I
p.N1799I

20.7

-

Guo2018 T
Wang2016 T

ITPR1

7-0256-003

chr3:
4683087-4683087

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

GX0283.p1

chr3:
4732872-4732872

C

G

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C3828G
c.C3801G
c.C3846G

p.F1276L
p.F1267L
p.F1282L

12.79

4.443E-5

Guo2018 T

ITPR1

M21701

chr3:
4776967-4776967

A

T

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.A5284T
c.A5329T
c.A5428T

p.S1762C
p.S1777C
p.S1810C

29.7

2.0E-4

Guo2018 T
Wang2016 T

ITPR1

M32029

chr3:
4856118-4856118

G

A

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G7384A
c.G7429A
c.G7528A

p.A2462T
p.A2477T
p.A2510T

11.82

8.281E-6

Guo2018 T

ITPR1

M23789

chr3:
4776967-4776967

A

T

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.A5284T
c.A5329T
c.A5428T

p.S1762C
p.S1777C
p.S1810C

29.7

2.0E-4

Guo2018 T
Wang2016 T

ITPR1

GX0325.p1

chr3:
4747952-4747952

C

T

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C4714T
c.C4687T
c.C4732T

p.R1572W
p.R1563W
p.R1578W

13.58

1.659E-5

Guo2018 T

ITPR1

1-0139-005

chr3:
4918488-4918488

G

T

intergenic

De novo

-

Yuen2017 G

ITPR1

211-5542-3

chr3:
4744576-4744576

G

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G4554T
c.G4527T
c.G4572T

p.W1518C
p.W1509C
p.W1524C

21.2

-

Stessman2017 T

ITPR1

SP0057931

chr3:
4738776-4738776

T

G

intronic

De novo

-

Fu2022 E

ITPR1

M30790

chr3:
4856128-4856128

C

T

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.C7394T
c.C7439T
c.C7538T

p.T2465M
p.T2480M
p.T2513M

7.173

3.312E-5

Guo2018 T

ITPR1

HN0117.p1

chr3:
4856118-4856118

G

A

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G7384A
c.G7429A
c.G7528A

p.A2462T
p.A2477T
p.A2510T

11.82

8.281E-6

Guo2018 T

ITPR1

PN400113

chr3:
4714914-4714914

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Leblond2019 E

ITPR1

SP0050126

chr3:
4825604-4825604

G

C

exonic

De novo

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G6426C
c.G6471C
c.G6570C

p.E2142D
p.E2157D
p.E2190D

25.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ITPR1

SP0024542

chr3:
4738840-4738840

G

A

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G4246A
c.G4219A
c.G4264A

p.A1416T
p.A1407T
p.A1422T

28.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ITPR1

PN400480

chr3:
4714914-4714914

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Leblond2019 E

ITPR1

M20967

chr3:
4693880-4693880

C

T

exonic

Paternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.C929T
c.C929T
c.C929T

p.T310M
p.T310M
p.T310M

27.3

4.033E-5

Guo2018 T
Wang2016 T

ITPR1

M13338

chr3:
4747976-4747976

C

T

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C4738T
c.C4711T
c.C4756T

p.R1580C
p.R1571C
p.R1586C

15.63

6.652E-5

Guo2018 T
Wang2016 T

ITPR1

08C78818

chr3:
4774764-4774764

G

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITPR1

M8067

chr3:
4768829-4768829

C

T

exonic

Paternal

nonsynonymous SNV

NM_001168272

c.C5147T

p.P1716L

21.6

-

Wang2016 T

ITPR1

M20748

chr3:
4808230-4808230

G

C

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G5372C
c.G5417C
c.G5516C

p.R1791P
p.R1806P
p.R1839P

26.3

-

Guo2018 T
Wang2016 T

ITPR1

1-0079-003

chr3:
4686636-4686636

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

12759.p1

chr3:
4699938-4699938

G

A

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1082A
c.G1082A
c.G1127A

p.R361H
p.R361H
p.R376H

18.91

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ITPR1

2-1177-003

chr3:
4800033-4800033

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITPR1

11194.p1

chr3:
4772374-4772374

G

T

intronic

De novo

-

Turner2016 G

ITPR1

GX0523.p1

chr3:
4732872-4732872

C

G

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C3828G
c.C3801G
c.C3846G

p.F1276L
p.F1267L
p.F1282L

12.79

4.443E-5

Guo2018 T

ITPR1

GX0372.p1

chr3:
4725426-4725426

G

A

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G3397A
c.G3370A
c.G3415A

p.G1133S
p.G1124S
p.G1139S

14.76

5.809E-5

Guo2018 T

ITPR1

HN0037.p1

chr3:
4767243-4767243

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168272

c.C5105T

p.P1702L

13.14

3.407E-5

Guo2018 T

ITPR1

1-0261-003

chr3:
4928175-4928178

TAAC

T

intergenic

De novo

-

Yuen2017 G

ITPR1

GX0307.p1

chr3:
4732872-4732872

C

G

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C3828G
c.C3801G
c.C3846G

p.F1276L
p.F1267L
p.F1282L

12.79

4.443E-5

Guo2018 T

ITPR1

2-0006-004

chr3:
4820852-4820852

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

HN0005.p1

chr3:
4669539-4669539

G

A

exonic

Maternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.G256A
c.G256A
c.G256A

p.A86T
p.A86T
p.A86T

11.65

7.49E-5

Guo2018 T

ITPR1

M8881

chr3:
4716870-4716870

C

G

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2672G
c.C2672G
c.C2717G

p.P891R
p.P891R
p.P906R

14.7

8.285E-6

Wang2016 T

ITPR1

M31956

chr3:
4716870-4716870

C

G

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2672G
c.C2672G
c.C2717G

p.P891R
p.P891R
p.P906R

14.7

8.285E-6

Guo2018 T

ITPR1

M17551

chr3:
4836846-4836846

C

G

exonic

Paternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.C6717G
c.C6762G
c.C6861G

p.F2239L
p.F2254L
p.F2287L

21.2

-

Guo2018 T
Wang2016 T

ITPR1

M20277

chr3:
4712442-4712442

G

T

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1991T
c.G1991T
c.G2036T

p.G664V
p.G664V
p.G679V

5.437

-

Guo2018 T
Wang2016 T

ITPR1

GX0284.p1

chr3:
4714914-4714914

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Guo2018 T

ITPR1

2-0142-003

chr3:
4650642-4650642

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

M31959

chr3:
4706906-4706906

G

A

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1594A
c.G1594A
c.G1639A

p.A532T
p.A532T
p.A547T

34.0

8.282E-6

Guo2018 T

ITPR1

2-1644-004

chr3:
4771763-4771763

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

GX0219.p1

chr3:
4810270-4810270

C

A

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.C5612A
c.C5657A
c.C5756A

p.A1871D
p.A1886D
p.A1919D

25.4

8.302E-6

Guo2018 T

ITPR1

GX0219.p2

chr3:
4810270-4810270

C

A

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.C5612A
c.C5657A
c.C5756A

p.A1871D
p.A1886D
p.A1919D

25.4

8.302E-6

Guo2018 T

ITPR1

HN0121.p1

chr3:
4842276-4842276

G

A

exonic

Maternal

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G6910A
c.G6955A
c.G7054A

p.A2304T
p.A2319T
p.A2352T

16.91

8.0E-4

Guo2018 T

ITPR1

AU04404

chr3:
4703923-4703923

G

C

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1364C
c.G1364C
c.G1409C

p.R455T
p.R455T
p.R470T

23.4

-

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

ITPR1

AU2951303

chr3:
4578191-4578191

T

C

intronic

De novo

-

Yuen2017 G

ITPR1

X8G5T

chr3:
4693861-4693861

C

T

exonic

Unknown

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.C910T
c.C910T
c.C910T

p.R304C
p.R304C
p.R304C

19.23

-

Stessman2017 T

ITPR1

M14999

chr3:
4752093-4752093

G

A

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G4882A
c.G4855A
c.G4900A

p.E1628K
p.E1619K
p.E1634K

36.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

ITPR1

3-0728-000

chr3:
4735201-4735201

G

A

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G4012A
c.G3985A
c.G4030A

p.V1338M
p.V1329M
p.V1344M

22.9

-

Trost2022 G
Zhou2022 GE

ITPR1

AU3051303

chr3:
4749873-4749873

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

PN400190

chr3:
4714914-4714914

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Leblond2019 E

ITPR1

PN400521

chr3:
4714914-4714914

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Leblond2019 E

ITPR1

229-09-111414

chr3:
4718357-4718357

C

T

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2794T
c.C2767T
c.C2812T

p.R932W
p.R923W
p.R938W

17.48

8.386E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITPR1

M26902

chr3:
4718405-4718405

G

A

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G2842A
c.G2815A
c.G2860A

p.G948S
p.G939S
p.G954S

11.74

-

Guo2018 T
Wang2016 T

ITPR1

SP0108603

chr3:
4836869-4836869

G

A

exonic

nonsynonymous SNV

NM_002222
NM_001099952
NM_001168272

c.G6740A
c.G6785A
c.G6884A

p.G2247E
p.G2262E
p.G2295E

11.74

-

Zhou2022 GE

ITPR1

M19738

chr3:
4562755-4562755

A

G

exonic

Maternal

nonsynonymous SNV

NM_001099952
NM_001168272
NM_002222

c.A140G
c.A140G
c.A140G

p.N47S
p.N47S
p.N47S

10.06

9.206E-5

Wang2016 T

ITPR1

M12516

chr3:
4714966-4714966

G

A

exonic

Maternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G2306A
c.G2306A
c.G2351A

p.R769H
p.R769H
p.R784H

15.83

8.287E-6

Guo2018 T
Wang2016 T

ITPR1

2-1562-003

chr3:
4920062-4920062

C

T

intergenic

De novo

-

Yuen2017 G

ITPR1

SSC06389

chr3:
4699938-4699938

G

A

exonic

De novo

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G1082A
c.G1082A
c.G1127A

p.R361H
p.R361H
p.R376H

18.91

-

Fu2022 E
Trost2022 G

ITPR1

1-0652-003

chr3:
4565404-4565404

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

PN400584

chr3:
4714914-4714914

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2254T
c.C2254T
c.C2299T

p.R752C
p.R752C
p.R767C

18.73

4.146E-5

Leblond2019 E

ITPR1

A32

chr3:
4654299-4654299

G

T

intronic

De novo

-

Wu2018 G

ITPR1

AU4314302

chr3:
4802964-4802964

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

M08787

chr3:
4715070-4715070

G

A

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.G2410A
c.G2410A
c.G2455A

p.D804N
p.D804N
p.D819N

27.1

3.492E-5

Guo2018 T

ITPR1

M09118

chr3:
4712432-4712432

G

C/G

exonic

Paternal

-

Guo2018 T

ITPR1

M13346

chr3:
4716926-4716926

C

A

exonic

Paternal

nonsynonymous SNV

NM_001168272

c.C2728A

p.L910M

13.17

-

Guo2018 T

ITPR1

AU3712302

chr3:
4918996-4918996

T

G

intergenic

De novo

-

Yuen2017 G

ITPR1

M08881

chr3:
4716870-4716870

C

G

exonic

Paternal

nonsynonymous SNV

NM_001168272
NM_002222
NM_001099952

c.C2672G
c.C2672G
c.C2717G

p.P891R
p.P891R
p.P906R

14.7

8.285E-6

Guo2018 T

ITPR1

2-1431-003

chr3:
4555643-4555643

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR1

2-1364-003

chr3:
4893098-4893098

G

A

intergenic

De novo

-

Yuen2017 G

ITPR1

AU3712302

chr3:
4919493-4919493

G

A

intergenic

De novo

-

Yuen2017 G

ITPR1

M08704

chr3:
4767236-4767236

C

T

exonic

Paternal

nonsynonymous SNV

NM_001168272

c.C5098T

p.P1700S

5.542

-

Guo2018 T

ITPR1

M01823

chr3:
4718441-4718441

A

A/G

exonic

Paternal

-

Guo2018 T

ITPR1

M08067

chr3:
4768829-4768829

C

T

exonic

Paternal

nonsynonymous SNV

NM_001168272

c.C5147T

p.P1716L

21.6

-

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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