Variant Results

or

or

Results for "DIP2B"

Variant Events: 27

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

DIP2B

AU1355301

chr12:
51085855-51085855

T

A

intronic

De novo

-

-

Yuen2017 G

DIP2B

iHART1312

chr12:
51118670-51118670

G

A

splicing

Maternal

splicing

27.2

-

Ruzzo2019 G

DIP2B

A27

chr12:
51079635-51079635

T

C

exonic

De novo

nonsynonymous SNV

NM_173602

c.T1337C

p.I446T

20.8

Wu2018 G

DIP2B

AU026604

chr12:
51107211-51107211

G

C

intronic

De novo

-

-

Yuen2017 G

DIP2B

2-1605-004

chr12:
50958977-50958977

G

A

intronic

De novo

-

-

Yuen2017 G

DIP2B

Li2017:23785

chr12:
51034600-51034600

G

A

exonic

Unknown

nonsynonymous SNV

NM_173602

c.G266A

p.R89Q

28.1

Li2017 T

DIP2B

3909_17au

chr12:
51054166-51054166

G

A

intronic

De novo

-

-

Fu2022 E

DIP2B

ASDFI_729

chr12:
51069223-51069223

T

A

exonic

De novo

nonsynonymous SNV

NM_173602

c.T908A

p.I303N

19.29

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

DIP2B

A15

chr12:
51089057-51089057

T

G

exonic

De novo

nonsynonymous SNV

NM_173602

c.T1727G

p.M576R

16.82

-

Wu2018 G

DIP2B

1-0673-003

chr12:
51008551-51008552

GT

GTT

intronic

De novo

-

-

Yuen2017 G

DIP2B

A11

chr12:
51133277-51133277

G

A

exonic

De novo

nonsynonymous SNV

NM_173602

c.G4262A

p.R1421H

18.65

Wu2018 G

DIP2B

11341.p1

chr12:
50973951-50973951

G

T

intronic

De novo

-

-

Turner2016 G

DIP2B

AU031203

chr12:
51000518-51000518

A

G

intronic

De novo

-

-

Yuen2017 G

DIP2B

GEA456

chr12:
51125223-51125223

C

G

exonic

De novo

nonsynonymous SNV

NM_173602

c.C3713G

p.S1238C

13.41

-

Fu2022 E

DIP2B

DEASD_1095_001

chr12:
51097940-51097940

T

C

exonic

De novo

synonymous SNV

NM_173602

c.T2343C

p.S781S

-

-

Fu2022 E
Satterstrom2020 E

DIP2B

Hu2022:10

chr12:
51128855-51128855

G

A

splicing

Unknown

splicing

19.79

-

Hu2022 T

DIP2B

AU4032306

chr12:
50993593-50993593

A

G

intronic

De novo

-

-

Yuen2017 G

DIP2B

1-0139-005

chr12:
51081867-51081867

C

A

intronic

De novo

-

-

Yuen2017 G

DIP2B

Hu2022:66

chr12:
51068356-51068356

T

C

exonic

Unknown

nonsynonymous SNV

NM_173602

c.T740C

p.I247T

6.658

-

Hu2022 T

DIP2B

1-0139-005

chr12:
51039477-51039477

A

G

intronic

De novo

-

-

Yuen2017 G

DIP2B

AU4007302

chr12:
51104948-51104948

T

G

intronic

De novo

-

-

Yuen2017 G

DIP2B

Hu2022:63

chr12:
51074491-51074491

C

T

exonic

Unknown

nonsynonymous SNV

NM_173602

c.C1151T

p.T384I

28.6

-

Hu2022 T

DIP2B

336-06-106561

chr12:
51065023-51065023

C

T

exonic

De novo

nonsynonymous SNV

NM_173602

c.C482T

p.S161F

17.36

-

Fu2022 E
Satterstrom2020 E

DIP2B

AU015903

chr12:
51153741-51153741

G

A

intergenic

De novo

-

-

Yuen2017 G

DIP2B

Li2017:20647

chr12:
51092112-51092112

C

T

exonic

Unknown

nonsynonymous SNV

NM_173602

c.C2050T

p.P684S

26.9

Li2017 T

DIP2B

2-1112-003

chr12:
51002723-51002723

G

A

intronic

De novo

-

-

Yuen2017 G

DIP2B

2-1409-003

chr12:
51018895-51018895

T

C

intronic

De novo

-

-

Yuen2016 G
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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