Variant Results

or

Results for "TMEM132B"

Variant Events: 55

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

TMEM132B

1-0329-004

chr12:
126043598-126043598

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

2-0022-004

chr12:
126092830-126092830

G

T

intronic

De novo

-

Trost2022 G

TMEM132B

SP0194290

chr12:
126128755-126128755

T

C

exonic

De novo

nonsynonymous SNV

NM_001286219
NM_052907

c.T92C
c.T1556C

p.L31P
p.L519P

16.91

-

Trost2022 G

TMEM132B

4-0037-004

chr12:
126087064-126087064

G

T

intronic

De novo

-

Trost2022 G

TMEM132B

10-0006-003

chr12:
126090950-126090952

ATG

A

intronic

De novo

-

Trost2022 G

TMEM132B

AU055603

chr12:
126047373-126047373

C

T

intronic

De novo

-

Trost2022 G

TMEM132B

5-5223-003

chr12:
126077505-126077505

A

G

intronic

De novo

-

Trost2022 G

TMEM132B

3-0772-000

chr12:
126001738-126001738

G

A

intronic

De novo

-

Trost2022 G

TMEM132B

MSSNG00445-003

chr12:
126015892-126015892

C

T

intronic

De novo

-

Trost2022 G

TMEM132B

AU0636303

chr12:
126275231-126275231

G

T

intergenic

De novo

-

Yuen2017 G

TMEM132B

AU1725302

chr12:
126323014-126323014

C

T

intergenic

De novo

-

Yuen2017 G

TMEM132B

7-0202-003

chr12:
126146101-126146101

G

A

UTR3

De novo

-

Trost2022 G

TMEM132B

AU006804

chr12:
126169863-126169863

T

C

intergenic

De novo

-

Yuen2017 G

TMEM132B

SP0021697

chr12:
126138777-126138777

G

C

exonic

De novo

nonsynonymous SNV

NM_001286219
NM_052907

c.G1294C
c.G2758C

p.V432L
p.V920L

20.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TMEM132B

SP0084485

chr12:
125834819-125834819

C

T

exonic

De novo

nonsynonymous SNV

NM_052907

c.C874T

p.R292W

18.89

1.676E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TMEM132B

2-1315-003

chr12:
126266306-126266306

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM132B

AU1933302

chr12:
125891480-125891480

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

2-0319-003

chr12:
126169830-126169830

C

A

intergenic

De novo

-

Yuen2017 G

TMEM132B

7-0249-004

chr12:
126120592-126120592

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

11380.p1

chr12:
125834485-125834486

AG

A

exonic

De novo

frameshift deletion

NM_052907

c.541delG

p.G181fs

-

Ji2016 E
Krumm2015 E

TMEM132B

7-0129-003

chr12:
126007367-126007367

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

1-0372-003

chr12:
126360419-126360419

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM132B

1-0389-004

chr12:
126087374-126087374

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

AU4188302

chr12:
126113899-126113899

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

13951.p1

chr12:
126414167-126414167

C

T

intergenic

De novo

-

Turner2016 G

TMEM132B

12568.p1

chr12:
126123734-126123734

T

C

intronic

De novo

-

Turner2016 G

TMEM132B

13539.p1

chr12:
126397152-126397152

T

C

intergenic

De novo

-

Turner2016 G

TMEM132B

08C73641

chr12:
125900086-125900086

G

A

exonic

De novo

synonymous SNV

NM_052907

c.G954A

p.A318A

-

Fu2022 E

TMEM132B

7-0104-003

chr12:
126201961-126201961

G

C

intergenic

De novo

-

Yuen2017 G

TMEM132B

60-2027

chr12:
126210830-126210830

G

A

intergenic

De novo

-

Michaelson2012 G

TMEM132B

AU4327303

chr12:
126182829-126182829

C

T

intergenic

De novo

-

Yuen2017 G

TMEM132B

2-1288-003

chr12:
126033496-126033496

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

7-0095-003

chr12:
125877969-125877969

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

AU059903

chr12:
125889818-125889832

GCTCTCTCTCTCTCT

GCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

TMEM132B

3-0430-000

chr12:
126247209-126247209

C

T

intergenic

De novo

-

Yuen2016 G

TMEM132B

1-0004-003

chr12:
125952621-125952621

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

AU2793303

chr12:
126176782-126176782

A

G

intergenic

De novo

-

Yuen2017 G

TMEM132B

AU4093301

chr12:
125945939-125945939

C

T

intronic

De novo

-

Yuen2017 G

TMEM132B

AU4093301

chr12:
125945946-125945946

A

G

intronic

De novo

-

Yuen2017 G

TMEM132B

AC01-0062-01

chr12:
126139127-126139127

C

T

exonic

De novo

synonymous SNV

NM_001286219
NM_052907

c.C1644T
c.C3108T

p.D548D
p.D1036D

-

5.807E-5

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

TMEM132B

2-0006-004

chr12:
126173959-126173959

G

C

intergenic

De novo

-

Yuen2017 G

TMEM132B

1-0570-003

chr12:
126063901-126063901

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

1-0065-005

chr12:
126291275-126291275

T

TTAAG

intergenic

De novo

-

Yuen2017 G

TMEM132B

1-0142-005

chr12:
125863282-125863282

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

1-0354-003

chr12:
125914348-125914348

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

5-0020-003

chr12:
125985280-125985280

A

C

intronic

De novo

-

Trost2022 G

TMEM132B

AU058104

chr12:
125989736-125989736

A

C

intronic

De novo

-

Trost2022 G

TMEM132B

1-0945-003

chr12:
125882927-125882927

C

T

intronic

De novo

-

Trost2022 G

TMEM132B

A17

chr12:
126254462-126254462

A

AATA

intergenic

De novo

-

Wu2018 G

TMEM132B

MSSNG00368-003

chr12:
125959712-125959712

G

C

intronic

De novo

-

Trost2022 G

TMEM132B

5-1042-003

chr12:
125826234-125826234

T

C

intronic

De novo

-

Trost2022 G

TMEM132B

1-0559-005

chr12:
126068051-126068076

ATTTGAAAAATACTGAAAGGAACTCG

A

intronic

De novo

-

Yuen2017 G

TMEM132B

3-0516-000

chr12:
125850882-125850882

C

T

intronic

De novo

-

Trost2022 G

TMEM132B

1-0305-004

chr12:
125850834-125850834

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM132B

1-1005-003A

chr12:
125819508-125819508

C

T

intronic

De novo

-

Trost2022 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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