Variant Results

or

Results for "TMEM132C"

Variant Events: 35

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

TMEM132C

14260.p1

chr12:
128850406-128850406

T

A

intronic

De novo

-

Wilfert2021 G

TMEM132C

63-343

chr12:
128807886-128807886

C

T

intronic

De novo

-

Michaelson2012 G

TMEM132C

5-0054-003

chr12:
128961690-128961690

G

C

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0345-004

chr12:
128894595-128894595

T

C

intronic

De novo

-

Yuen2017 G

TMEM132C

7-0179-003

chr12:
128792974-128792974

T

C

intronic

De novo

-

Yuen2017 G

TMEM132C

AU002903

chr12:
128790969-128790969

G

C

intronic

De novo

-

Yuen2017 G

TMEM132C

AU4006302

chr12:
128941899-128941899

A

C

intronic

De novo

-

Yuen2017 G

TMEM132C

3-0458-000A

chr12:
129193007-129193007

G

C

downstream

De novo

-

Yuen2017 G

TMEM132C

1-0539-003

chr12:
129230129-129230129

G

T

intergenic

De novo

-

Yuen2017 G

TMEM132C

2-1444-003

chr12:
128887680-128887680

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM132C

1-0197-003

chr12:
128962486-128962486

T

A

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0469-003

chr12:
128862728-128862728

C

T

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0534-006

chr12:
129067606-129067606

G

T

intronic

De novo

-

Yuen2017 G

TMEM132C

2-0068-003

chr12:
128842826-128842826

G

A

intronic

De novo

-

Yuen2017 G

TMEM132C

iHART1042

chr12:
129180592-129180593

AC

A

exonic

Maternal

frameshift deletion

NM_001136103

c.1874delC

p.T625fs

-

Ruzzo2019 G

TMEM132C

AU1909304

chr12:
129098267-129098267

G

A

intronic

De novo

-

Yuen2017 G

TMEM132C

2-1635-004

chr12:
128812570-128812570

C

T

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0971-003

chr12:
129132767-129132767

A

G

intronic

De novo

-

Yuen2017 G

TMEM132C

AU4145301

chr12:
128850697-128850697

G

A

intronic

De novo

-

Yuen2017 G

TMEM132C

AU3725302

chr12:
129181816-129181816

C

T

exonic

De novo

synonymous SNV

NM_001136103

c.C1977T

p.T659T

-

Yuen2017 G

TMEM132C

1-0454-003

chr12:
128800425-128800425

C

G

intronic

De novo

-

Yuen2017 G

TMEM132C

2-1480-003

chr12:
129116858-129116858

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM132C

1-0835-003

chr12:
129028642-129028642

G

A

exonic

De novo

nonsynonymous SNV

NM_001136103

c.G1115A

p.R372H

12.24

2.0E-4

Yuen2017 G

TMEM132C

AU4237304

chr12:
128820243-128820243

T

C

intronic

De novo

-

Yuen2017 G

TMEM132C

AU3853302

chr12:
129108982-129108982

G

C

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0007-003

chr12:
128762202-128762202

G

T

intronic

De novo

-

Yuen2017 G

TMEM132C

2-0012-003

chr12:
129110510-129110510

A

C

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0652-004

chr12:
129201001-129201001

C

T

intergenic

De novo

-

Yuen2017 G

TMEM132C

2-1629-003

chr12:
128781188-128781188

C

T

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0139-005

chr12:
128846690-128846690

G

A

intronic

De novo

-

Yuen2017 G

TMEM132C

2-1425-004

chr12:
129038951-129038951

C

T

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0826-003

chr12:
129072688-129072688

T

A

intronic

De novo

-

Yuen2017 G

TMEM132C

1-0272-004

chr12:
128794871-128794871

G

C

intronic

De novo

-

Yuen2017 G

TMEM132C

AU2035301

chr12:
129002281-129002281

C

A

intronic

De novo

-

Yuen2017 G

TMEM132C

SSC03679

chr12:
129181906-129181906

C

G

exonic

De novo

nonsynonymous SNV

NM_001136103

c.C2067G

p.S689R

11.78

2.0E-4

Lim2017 E

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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