Variant Results

or

Results for "ITPR2"

Variant Events: 60

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

ITPR2

1-0772-003

chr12:
26716759-26716759

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-1529-003

chr12:
27015561-27015575

GCTCTCTCTCTCTCT

GCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

ITPR2

12011-1

chr12:
26648046-26648046

T

G

intronic

De novo

-

Fu2022 E

ITPR2

SMHC01369d000

chr12:
26589281-26589281

T

C

splicing

De novo

splicing

11.53

-

Yuan2023 E

ITPR2

AU1725306

chr12:
26815673-26815673

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-1627-003

chr12:
26543351-26543351

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-0219-004

chr12:
26519455-26519455

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

SP0076261

chr12:
26775285-26775285

C

G

exonic

nonsynonymous SNV

NM_002223

c.G3176C

p.R1059P

31.0

-

Zhou2022 GE

ITPR2

2-0307-003

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

1-0541-003

chr12:
26851408-26851408

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

AU046708

chr12:
27010461-27010461

T

G

intergenic

De novo

-

Yuen2017 G

ITPR2

2-0295-003

chr12:
26790086-26790086

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-0202-003

chr12:
26776426-26776426

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

5-0003-004

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

7-0233-004

chr12:
26577822-26577822

A

AGTG

intronic

De novo

-

Trost2022 G

ITPR2

MSSNG00091-003

chr12:
26628568-26628568

A

C

intronic

De novo

-

Trost2022 G

ITPR2

4-0075-003

chr12:
26544497-26544497

T

TC

intronic

De novo

-

Trost2022 G

ITPR2

MSSNG00421-007

chr12:
26556954-26556954

G

A

intronic

De novo

-

Trost2022 G

ITPR2

1-0481-003

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

7-0322-003

chr12:
26520728-26520728

T

C

intronic

De novo

-

Trost2022 G

ITPR2

1-0207-005

chr12:
26524331-26524331

C

G

intronic

De novo

-

Trost2022 G

ITPR2

2-0240-004

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

7-0005-003

chr12:
26509544-26509544

C

A

intronic

De novo

-

Trost2022 G

ITPR2

2-1406-003

chr12:
26642284-26642284

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITPR2

2-1109-004

chr12:
26515294-26515296

CAG

AC

intronic

De novo

-

Trost2022 G

ITPR2

74-0075

chr12:
27007722-27007722

C

T

intergenic

De novo

-

Michaelson2012 G

ITPR2

1-0006-003

chr12:
26532714-26532714

G

GTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

AU2463301

chr12:
26760778-26760778

C

T

intronic

De novo

-

Trost2022 G

ITPR2

7-0478-003

chr12:
26795126-26795126

T

A

intronic

De novo

-

Trost2022 G

ITPR2

AU3765303

chr12:
26656372-26656372

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

MT_160.3

chr12:
26729737-26729737

T

C

intronic

De novo

-

Trost2022 G

ITPR2

2-1376-003

chr12:
26676281-26676281

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITPR2

3-0025-000

chr12:
26738634-26738634

G

A

intronic

De novo

-

Trost2022 G

ITPR2

1-0206-005

chr12:
26697613-26697615

AAG

TTTTTTTTTTTT

intronic

De novo

-

Trost2022 G

ITPR2

4-0007-003

chr12:
26727725-26727725

G

A

intronic

De novo

-

Trost2022 G

ITPR2

3-0604-000

chr12:
26666015-26666015

C

T

intronic

De novo

-

Trost2022 G

ITPR2

2-1327-004

chr12:
26487631-26487631

T

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-1339-003

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

2-1297-003

chr12:
26697594-26697598

AAAAT

CCGCGCCCGGCC

intronic

De novo

-

Trost2022 G

ITPR2

4-0037-003

chr12:
26927803-26927803

G

A

intronic

De novo

-

Trost2022 G

ITPR2

3-0749-000A

chr12:
26933328-26933328

A

T

intronic

De novo

-

Trost2022 G

ITPR2

3-0346-000

chr12:
26819715-26819715

T

A

intronic

De novo

-

Trost2022 G

ITPR2

2-0215-003

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

7-0351-004

chr12:
26916332-26916332

C

T

intronic

De novo

-

Trost2022 G

ITPR2

2-1167-003

chr12:
26666789-26666789

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITPR2

2-1250-003

chr12:
26541820-26541820

C

T

intronic

De novo

-

Yuen2017 G

ITPR2

1-0402-003

chr12:
26958672-26958672

G

GC

intronic

De novo

-

Yuen2017 G

ITPR2

1-0336-003

chr12:
26829666-26829666

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

2-1379-003

chr12:
26632383-26632383

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITPR2

TRE_648

chr12:
26634169-26634169

A

C

exonic

De novo

nonsynonymous SNV

NM_002223

c.T6018G

p.C2006W

16.83

-

Fu2022 E

ITPR2

2-0299-005

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

12795.p1

chr12:
26942112-26942112

A

G

intronic

De novo

-

Turner2016 G
Werling2018 G

ITPR2

2-1066-003

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 G

ITPR2

1-0405-003

chr12:
26540119-26540119

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITPR2

AU007503

chr12:
27007722-27007722

C

T

intergenic

De novo

-

Yuen2017 G

ITPR2

SP0040016

chr12:
26834779-26834779

A

G

intronic

De novo

-

Fu2022 E

ITPR2

SP0089117

chr12:
26781099-26781099

T

C

intronic

De novo

-

8.439E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ITPR2

SP0077972

chr12:
26714691-26714691

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ITPR2

AU071203

chr12:
26887853-26887853

C

T

intronic

De novo

-

Yuen2017 G

ITPR2

1-0158-012

chr12:
26650425-26650425

T

TGCC

intronic

De novo

-

Yuen2017 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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