Variant Results

or

Results for "TMEM178A"

Variant Events: 16

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

TMEM178A

5-0148-003

chr2:
39915154-39915154

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM178A

13152.p1

chr2:
39944209-39944209

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001167959
NM_152390

c.C166T
c.C712T

p.R56W
p.R238W

18.64

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E

TMEM178A

12795.p1

chr2:
39908501-39908501

G

A

intronic

De novo

-

Turner2016 G

TMEM178A

4-0062-003

chr2:
39892166-39892167

GA

TT

upstream

De novo

-

Trost2022 G

TMEM178A

4-0062-003

chr2:
39892159-39892160

GA

AG

upstream

De novo

-

Trost2022 G

TMEM178A

1-0098-003A

chr2:
39934211-39934211

C

T

exonic

De novo

synonymous SNV

NM_152390

c.C537T

p.G179G

-

Trost2022 G
Zhou2022 GE

TMEM178A

08C73610

chr2:
39893296-39893296

C

A

exonic

De novo

nonsynonymous SNV

NM_152390

c.C182A

p.P61Q

23.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TMEM178A

1-0104-003

chr2:
39932863-39932863

C

A

intronic

De novo

-

Trost2022 G

TMEM178A

3-0380-000

chr2:
39930032-39930032

G

T

intronic

De novo

-

Trost2022 G

TMEM178A

MSSNG00007-003A

chr2:
39915432-39915432

G

C

intronic

De novo

-

Trost2022 G

TMEM178A

2-1723-003

chr2:
39915338-39915339

TG

CA

intronic

De novo

-

Trost2022 G

TMEM178A

MSSNG00216-003

chr2:
39928910-39928910

C

T

intronic

De novo

-

Trost2022 G

TMEM178A

2-1458-003

chr2:
39925865-39925865

A

G

intronic

De novo

-

Trost2022 G

TMEM178A

AU073005

chr2:
39953526-39953526

C

A

intergenic

De novo

-

Yuen2017 G

TMEM178A

SSC06613

chr2:
39944209-39944209

C

T

exonic

De novo

nonsynonymous SNV

NM_001167959
NM_152390

c.C166T
c.C712T

p.R56W
p.R238W

18.64

-

Lim2017 E

TMEM178A

AU073005

chr2:
39953505-39953505

C

A

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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