Variant Results

or

or

Results for "TGFBR1"

Variant Events: 11

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

TGFBR1

AU2463301

chr9:
101909102-101909102

C

T

intronic

De novo

-

-

Trost2022 G

TGFBR1

2-1466-003

chr9:
101948962-101948962

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TGFBR1

Mahjani2021:5

chr9:
101907029-101907029

C

A

exonic

nonsynonymous SNV

NM_001130916
NM_001306210
NM_004612

c.C758A
c.C1001A
c.C989A

p.A253D
p.A334D
p.A330D

27.9

-

Mahjani2021 E

TGFBR1

ASC_CA_57_A

chr9:
101890219-101890219

A

G

intronic

De novo

5.608

-

Satterstrom2020 E
Trost2022 G

TGFBR1

1-0460-003

chr9:
101951643-101951643

C

G

intergenic

De novo

-

-

Yuen2017 G

TGFBR1

A000334

chr9:
101911554-101911554

G

T

exonic

De novo

synonymous SNV

NM_001130916
NM_001306210
NM_004612

c.G1248T
c.G1491T
c.G1479T

p.S416S
p.S497S
p.S493S

-

-

Fu2022 E

TGFBR1

2-1245-003

chr9:
101962066-101962066

G

A

intergenic

De novo

-

-

Yuen2017 G

TGFBR1

MT_179.3

chr9:
101868981-101868981

C

CAT

intronic

De novo

-

-

Trost2022 G

TGFBR1

4-0022-003

chr9:
101904446-101904446

T

A

intronic

De novo

-

-

Trost2022 G

TGFBR1

2-1350-004

chr9:
101910439-101910439

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TGFBR1

SP0120545

chr9:
101904981-101904981

C

G

exonic

synonymous SNV

NM_001130916
NM_001306210
NM_004612

c.C738G
c.C981G
c.C969G

p.T246T
p.T327T
p.T323T

-

-

Zhou2022 GE

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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