Variant Results

or

or

Results for "TMEM178B"

Variant Events: 18

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

TMEM178B

2-1005-003

chr7:
141177653-141177654

TA

T

UTR3

De novo

-

-

Yuen2017 G

TMEM178B

AU2410301

chr7:
141027479-141027490

GGACTTTCAAGA

GGA

intronic

De novo

-

-

Yuen2017 G

TMEM178B

1-0632-003

chr7:
140837265-140837265

G

A

intronic

De novo

-

-

Yuen2017 G

TMEM178B

2-0110-003

chr7:
141074698-141074698

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM178B

MSSNG00410-003

chr7:
141137445-141137445

G

A

exonic

synonymous SNV

NM_001195278

c.G534A

p.A178A

-

Zhou2022 GE

TMEM178B

2-1264-003

chr7:
140942452-140942452

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM178B

AU2292301

chr7:
140917222-140917222

T

C

intronic

De novo

-

-

Yuen2017 G

TMEM178B

AU2292302

chr7:
140917222-140917222

T

C

intronic

De novo

-

-

Yuen2017 G

TMEM178B

2-0102-003

chr7:
140964914-140964914

A

G

intronic

De novo

-

-

Yuen2017 G

TMEM178B

2-0198-003

chr7:
141196031-141196031

C

T

intergenic

De novo

-

-

Yuen2017 G

TMEM178B

AU060004

chr7:
140891025-140891025

C

G

intronic

De novo

-

-

Yuen2017 G

TMEM178B

AU2129303

chr7:
140912382-140912382

C

G

intronic

De novo

-

-

Yuen2017 G

TMEM178B

AU4336301

chr7:
140918603-140918603

C

T

intronic

De novo

-

-

Yuen2017 G

TMEM178B

2-0019-004

chr7:
141208169-141208169

A

G

intergenic

De novo

-

-

Yuen2017 G

TMEM178B

13298.p1

chr7:
141001771-141001771

G

A

intronic

De novo

-

-

Turner2016 G

TMEM178B

2-1428-003

chr7:
140785199-140785199

G

A

intronic

De novo

-

-

Yuen2017 G

TMEM178B

AU4007302

chr7:
141122677-141122677

A

G

intronic

De novo

-

-

Yuen2017 G

TMEM178B

2-1702-004

chr7:
140834431-140834431

A

G

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
	More