Variant Results

or

Results for "TMEM135"

Variant Events: 53

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

TMEM135

13964.p1

chr11:
86871104-86871104

A

G

intronic

Unknown, De novo

-

Turner2016 G
Werling2018 G

TMEM135

2-1529-003

chr11:
87074042-87074042

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1169-003

chr11:
87311929-87311929

A

T

intergenic

De novo

-

Yuen2017 G

TMEM135

1-0051-004

chr11:
86865854-86865854

T

TGGTGA

intronic

De novo

-

Yuen2017 G

TMEM135

AU4423303

chr11:
87040359-87040359

A

C

downstream

De novo

-

Yuen2017 G

TMEM135

AU4092302

chr11:
87091522-87091522

T

C

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1267-003

chr11:
87320183-87320188

TAAATG

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU4079302

chr11:
87634224-87634231

CTTTTTTT

CTTTTTTTT

intergenic

De novo

-

Yuen2017 G

TMEM135

2-0028-003

chr11:
87411416-87411416

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU061003

chr11:
86785315-86785315

T

C

intronic

De novo

-

Yuen2017 G

TMEM135

AU063005

chr11:
87651681-87651681

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

2-0244-003

chr11:
87072079-87072079

A

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU4336301

chr11:
86763719-86763719

A

T

intronic

De novo

-

Yuen2017 G

TMEM135

63-449

chr11:
87813204-87813204

C

T

intergenic

De novo

-

Michaelson2012 G

TMEM135

AU4079301

chr11:
87113145-87113145

A

G

intergenic

De novo

-

Yuen2017 G

TMEM135

AU4197301

chr11:
87243508-87243508

G

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU3891304

chr11:
86875435-86875435

T

C

intronic

De novo

-

Yuen2017 G

TMEM135

2-0323-004

chr11:
86825129-86825129

C

CA

intronic

De novo

-

Yuen2017 G

TMEM135

1-0079-003

chr11:
87433692-87433692

T

G

intergenic

De novo

-

Yuen2017 G

TMEM135

AU2458303

chr11:
86790668-86790668

A

G

intronic

De novo

-

Yuen2017 G

TMEM135

AU3702306

chr11:
87747268-87747268

C

G

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1620-004

chr11:
87354263-87354263

G

A

intergenic

De novo

-

Yuen2017 G

TMEM135

A20

chr11:
87062181-87062181

C

T

intergenic

De novo

-

Wu2018 G

TMEM135

1-0181-004

chr11:
87750277-87750277

G

T

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1626-003

chr11:
87558888-87558888

G

C

intergenic

De novo

-

Yuen2017 G

TMEM135

AU076508

chr11:
87632879-87632879

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

1-0566-003

chr11:
87138338-87138354

AATATATATATATATAT

AATATATATATATAT

intergenic

De novo

-

Yuen2017 G

TMEM135

AU4344301

chr11:
87456625-87456625

C

G

intergenic

De novo

-

Yuen2017 G

TMEM135

AU3637301

chr11:
87758610-87758610

T

C

intergenic

De novo

-

Yuen2017 G

TMEM135

2-0016-003

chr11:
87495592-87495592

G

A

intergenic

De novo

-

Yuen2017 G

TMEM135

AU026604

chr11:
87469565-87469565

G

A

intergenic

De novo

-

Yuen2017 G

TMEM135

AU2075301

chr11:
87067550-87067550

C

G

intergenic

De novo

-

Yuen2017 G

TMEM135

AU2123302

chr11:
87651494-87651503

CTATATATAT

CTATATATATAT

intergenic

De novo

-

Yuen2017 G

TMEM135

AU2075301

chr11:
87071537-87071537

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU2023302

chr11:
87073258-87073264

GTGTTGT

GTGT

intergenic

De novo

-

Yuen2017 G

TMEM135

7-0149-003

chr11:
86815038-86815038

A

C

intronic

De novo

-

Yuen2017 G

TMEM135

AU2248301

chr11:
86888841-86888841

G

C

intronic

De novo

-

Yuen2017 G

TMEM135

1-0534-006

chr11:
87018051-87018051

G

A

intronic

De novo

-

Yuen2017 G

TMEM135

1-0534-006

chr11:
86988527-86988527

A

G

intronic

De novo

-

Yuen2017 G

TMEM135

2-1379-003

chr11:
86892534-86892534

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM135

2-1132-003

chr11:
86758635-86758635

T

TG

intronic

De novo

-

Yuen2017 G

TMEM135

1-0054-004

chr11:
86986950-86986950

C

T

intronic

De novo

-

Yuen2017 G

TMEM135

2-0036-003

chr11:
87495592-87495592

G

A

intergenic

De novo

-

Yuen2016 G

TMEM135

AU4093301

chr11:
86757120-86757131

AAAAGTAAAGTA

AAAAGTA

intronic

De novo

-

Yuen2017 G

TMEM135

2-1336-004

chr11:
87198673-87198673

A

T

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1436-003

chr11:
87326837-87326837

G

A

intergenic

De novo

-

Yuen2017 G

TMEM135

AU058105

chr11:
86943283-86943283

G

A

intronic

De novo

-

Yuen2017 G

TMEM135

2-1629-003

chr11:
87593152-87593152

G

T

intergenic

De novo

-

Yuen2017 G

TMEM135

AU4060306

chr11:
87337996-87337996

G

A

intergenic

De novo

-

Yuen2017 G

TMEM135

AU3692301

chr11:
86758539-86758539

C

T

intronic

De novo

-

Yuen2017 G

TMEM135

1-0292-005

chr11:
87125241-87125241

C

T

intergenic

De novo

-

Yuen2017 G

TMEM135

5-0123-003

chr11:
87176352-87176353

CT

C

intergenic

De novo

-

Yuen2017 G

TMEM135

2-1365-003

chr11:
87217007-87217007

G

C

intergenic

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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