Variant Results

or

Results for "TMEM132D"

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

TMEM132D

AU2022302

chr12:
130145138-130145138

A

G

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0079-008

chr12:
130212290-130212290

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0404-003

chr12:
130306044-130306044

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0464-003

chr12:
129677454-129677454

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

3-0396-000

chr12:
129839690-129839690

G

A

intronic

De novo

-

Yuen2016 G

TMEM132D

1-0022-004

chr12:
129873418-129873418

A

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0022-004

chr12:
129873415-129873415

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

2-0063-005

chr12:
130485319-130485319

C

T

intergenic

De novo

-

Yuen2017 G

TMEM132D

2-1605-004

chr12:
130459649-130459649

A

AAAAC

intergenic

De novo

-

Yuen2017 G

TMEM132D

AU072504

chr12:
129714893-129714893

C

A

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0395-004

chr12:
130056138-130056138

A

T

intronic

De novo

-

Yuen2017 G

TMEM132D

AU3371303

chr12:
129961360-129961360

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

AU050403

chr12:
129943083-129943083

A

G

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0625-003

chr12:
130458583-130458583

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

5-0017-004

chr12:
129909831-129909831

C

T

intronic

De novo

-

Yuen2017 G

TMEM132D

AU4028302

chr12:
130170778-130170786

CTTGAATTG

CTTG

intronic

De novo

-

Yuen2017 G

TMEM132D

AU072905

chr12:
130435954-130435954

C

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

1-0045-003

chr12:
129905565-129905565

G

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0019-004

chr12:
130378968-130378968

A

G

intronic

De novo

-

Yuen2017 G

TMEM132D

5-0099-003

chr12:
130264374-130264374

G

C

intronic

De novo

-

Yuen2017 G

TMEM132D

2-1322-004

chr12:
130400777-130400777

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

14153.p1

chr12:
130439149-130439149

A

G

intergenic

De novo

-

Turner2016 G

TMEM132D

2-0323-004

chr12:
129574091-129574091

C

CG

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0373-003

chr12:
129874263-129874263

C

G

intronic

De novo

-

Yuen2017 G

TMEM132D

2-1348-003

chr12:
130020856-130020856

G

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0395-003

chr12:
130056138-130056138

A

T

intronic

De novo

-

Yuen2017 G

TMEM132D

74-0355

chr12:
129581774-129581774

C

T

intronic

De novo

-

Michaelson2012 G

TMEM132D

AU4412302

chr12:
130464613-130464613

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

2-0003-004

chr12:
130435547-130435547

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

63-449

chr12:
129763346-129763346

C

T

intronic

De novo

-

Michaelson2012 G

TMEM132D

2-1581-003

chr12:
129568016-129568016

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

7-0058-003

chr12:
130074047-130074047

A

AGTAT

intronic

De novo

-

Yuen2017 G

TMEM132D

AU3637301

chr12:
130502998-130502998

C

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

5-0138-003

chr12:
130304917-130304917

C

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0976-003

chr12:
130401786-130401786

C

T

intergenic

De novo

-

Yuen2017 G

TMEM132D

AU3849302

chr12:
130182765-130182765

G

T

intronic

De novo

-

Yuen2017 G

TMEM132D

AU2975302

chr12:
129738636-129738636

C

T

intronic

De novo

-

Yuen2017 G

TMEM132D

2-0127-004

chr12:
130326033-130326033

T

C

intronic

De novo

-

Yuen2017 G

TMEM132D

AU039305

chr12:
130429901-130429901

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

AU3637301

chr12:
130283849-130283849

A

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0896-003

chr12:
129637937-129637937

A

T

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0214-003

chr12:
130235440-130235440

T

G

intronic

De novo

-

Yuen2017 G

TMEM132D

2-1381-003

chr12:
130214562-130214562

C

G

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0558-003

chr12:
130134481-130134496

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

TMEM132D

AU048206

chr12:
129772372-129772372

G

T

intronic

De novo

-

Yuen2017 G

TMEM132D

2-1322-003

chr12:
130400777-130400777

G

A

intergenic

De novo

-

Yuen2017 G

TMEM132D

AU009805

chr12:
129816853-129816853

C

T

intronic

De novo

-

Yuen2017 G

TMEM132D

2-1129-003

chr12:
129873332-129873338

GATAATA

GATA

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0025-004

chr12:
129774862-129774862

T

C

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0354-003

chr12:
129998406-129998406

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

2-0002-005

chr12:
130267805-130267805

T

C

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0206-004

chr12:
130326773-130326773

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0559-005

chr12:
130277334-130277334

G

A

intronic

De novo

-

Yuen2017 G

TMEM132D

1-0701-003

chr12:
129743481-129743481

A

C

intronic

De novo

-

Yuen2017 G

TMEM132D

AU0146302

chr12:
130110789-130110789

C

T

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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