Variant Results

or

or

Results for "TGFBR2"

Variant Events: 19

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

TGFBR2

1-1200-003

chr3:
30714009-30714009

T

TA

intronic

De novo

-

-

Trost2022 G

TGFBR2

7-0354-004

chr3:
30731165-30731165

C

T

intronic

De novo

-

-

Trost2022 G

TGFBR2

2-1297-003

chr3:
30693245-30693245

T

A

intronic

De novo

-

-

Trost2022 G

TGFBR2

7-0226-003

chr3:
30695266-30695266

T

A

intronic

De novo

-

-

Trost2022 G

TGFBR2

3-0261-000

chr3:
30687274-30687274

G

A

intronic

De novo

-

-

Trost2022 G

TGFBR2

AU2248302

chr3:
30680163-30680163

T

A

intronic

De novo

-

-

Yuen2017 G

TGFBR2

3-0056-000

chr3:
30690967-30690967

G

C

intronic

De novo

-

-

Trost2022 G

TGFBR2

Li2017:17629

chr3:
30729969-30729969

G

A

exonic

Unknown

nonsynonymous SNV

NM_003242
NM_001024847

c.G1490A
c.G1565A

p.R497Q
p.R522Q

36.0

Li2017 T

TGFBR2

G01-GEA-96-HI

chr3:
30715656-30715656

T

C

exonic

Mosaic, De novo

synonymous SNV

NM_003242
NM_001024847

c.T1314C
c.T1389C

p.N438N
p.N463N

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TGFBR2

2-1235-004

chr3:
30751136-30751136

A

C

intergenic

De novo

-

-

Yuen2017 G

TGFBR2

CC1285_201

chr3:
30713163-30713163

T

C

exonic

De novo

nonsynonymous SNV

NM_003242
NM_001024847

c.T488C
c.T563C

p.V163A
p.V188A

6.612

-

Fu2022 E

TGFBR2

1-0582-003

chr3:
30747659-30747659

T

C

intergenic

De novo

-

-

Yuen2017 G

TGFBR2

AU072904

chr3:
30652114-30652114

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TGFBR2

Li2017:18479

chr3:
30733030-30733030

C

T

exonic

Unknown

nonsynonymous SNV

NM_003242
NM_001024847

c.C1643T
c.C1718T

p.S548L
p.S573L

21.1

Li2017 T

TGFBR2

Li2017:19708

chr3:
30686237-30686237

A

G

splicing

Unknown

splicing

10.16

Li2017 T

TGFBR2

AU4013302

chr3:
30744091-30744091

A

T

intergenic

De novo

-

-

Yuen2017 G

TGFBR2

A17

chr3:
30689161-30689161

A

AATT

intronic

De novo

-

-

Wu2018 G

TGFBR2

7-0253-003

chr3:
30710952-30710952

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TGFBR2

Li2017:19729

chr3:
30713451-30713451

A

G

exonic

Unknown

nonsynonymous SNV

NM_003242
NM_001024847

c.A776G
c.A851G

p.Y259C
p.Y284C

18.33

Li2017 T

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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