Variant Results

or

or

Results for "THSD7B"

Variant Events: 61

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

THSD7B

SP0077788

chr2:
138000068-138000068

T

G

exonic

De novo

nonsynonymous SNV

NM_001316349

c.T2192G

p.F731C

11.79

-

Fu2022 E

THSD7B

AU3636301

chr2:
138436631-138436643

TACTAACTAACTA

TACTAACTA

intergenic

De novo

-

-

Yuen2017 G

THSD7B

1-0508-003

chr2:
138174627-138174627

T

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU066403

chr2:
138047742-138047742

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU1542303

chr2:
138096442-138096442

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

JASD_Fam0244

chr2:
138375981-138375981

G

A

exonic

De novo

synonymous SNV

NM_001316349

c.G3585A

p.L1195L

-

-

Takata2018 E

THSD7B

1-0493-003

chr2:
137699985-137699985

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0494-003A

chr2:
138188229-138188229

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU4069301

chr2:
138194211-138194211

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0494-003A

chr2:
137706828-137706828

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0936-003

chr2:
138460276-138460276

C

A

intergenic

De novo

-

-

Yuen2017 G

THSD7B

1-0210-004

chr2:
138174583-138174583

T

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

7-0222-003

chr2:
137835733-137835733

C

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0022-003

chr2:
138050791-138050791

C

T

intronic

De novo

-

-

Yuen2016 G

THSD7B

1-0325-003

chr2:
138086442-138086442

C

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1094-005

chr2:
137560486-137560486

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU2569303

chr2:
137681118-137681118

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU2569303

chr2:
137891750-137891750

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0530-003

chr2:
137730100-137730101

AT

A

intronic

De novo

-

-

Yuen2016 G

THSD7B

12498.p1

chr2:
138198997-138198997

T

G

intronic

De novo

-

-

Turner2016 G

THSD7B

1-0459-003

chr2:
138127636-138127636

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0206-005

chr2:
137838062-137838062

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU039305

chr2:
138234161-138234161

T

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0656-003

chr2:
138227858-138227858

C

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

A19

chr2:
138565927-138565927

T

C

intergenic

De novo

-

-

Wu2018 G

THSD7B

3-0391-000

chr2:
138479410-138479410

A

C

intergenic

De novo

-

-

Yuen2017 G

THSD7B

1587021

chr2:
138413259-138413259

T

G

intronic

De novo

-

Satterstrom2020 E

THSD7B

1-0494-003

chr2:
137706828-137706828

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1381-003

chr2:
138476835-138476835

T

C

intergenic

De novo

-

-

Yuen2017 G

THSD7B

2-1731-003

chr2:
138382490-138382490

T

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1244-003

chr2:
137534430-137534444

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0570-003

chr2:
137720599-137720610

ACATATCATATC

ACATATC

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1246-003

chr2:
138443472-138443474

GTC

G

intergenic

De novo

-

-

Yuen2017 G

THSD7B

1-0494-003

chr2:
138188229-138188229

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0565-004

chr2:
138505937-138505937

A

G

intergenic

De novo

-

-

Yuen2017 G

THSD7B

2-0289-004

chr2:
138226273-138226273

T

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU3866301

chr2:
138497237-138497237

G

A

intergenic

De novo

-

-

Yuen2017 G

THSD7B

AU4153301

chr2:
138361715-138361715

C

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU3124302

chr2:
138604746-138604746

T

C

intergenic

De novo

-

-

Yuen2017 G

THSD7B

AU2089301

chr2:
138317680-138317680

G

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU4231301

chr2:
138224490-138224490

A

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU3124302

chr2:
138590331-138590331

T

G

intergenic

De novo

-

-

Yuen2017 G

THSD7B

1-0403-003

chr2:
137890963-137890963

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU3839303

chr2:
138611541-138611541

C

G

intergenic

De novo

-

-

Yuen2017 G

THSD7B

AU4191302

chr2:
138070140-138070140

G

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1735-003

chr2:
137710207-137710207

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU009805

chr2:
138382251-138382251

T

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0022-004

chr2:
138050791-138050791

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1215-003

chr2:
137909782-137909782

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1342-003

chr2:
137523536-137523536

G

A

intronic

De novo

-

-

Yuen2016 G

THSD7B

1-0006-004

chr2:
138203917-138203917

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU055004

chr2:
138015512-138015512

C

T

intronic

De novo

-

-

Yuen2017 G

THSD7B

1-0330-004

chr2:
137755735-137755735

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-0149-003

chr2:
137803101-137803101

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU1933302

chr2:
138267550-138267550

T

C

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1702-003

chr2:
137762826-137762826

A

G

intronic

De novo

-

-

Yuen2017 G

THSD7B

2-1275-003

chr2:
138077918-138077918

C

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU4027306

chr2:
138634737-138634737

C

T

intergenic

De novo

-

-

Yuen2017 G

THSD7B

iHART2290

chr2:
138421145-138421145

G

GGTGA

exonic

Maternal

frameshift insertion

NM_001316349

c.4651_4652insGTGA

p.D1551fs

-

-

Ruzzo2019 G

THSD7B

AU024607

chr2:
138352125-138352125

G

A

intronic

De novo

-

-

Yuen2017 G

THSD7B

AU2410302

chr2:
137990486-137990486

C

T

exonic

De novo

nonsynonymous SNV

NM_001316349

c.C1933T

p.P645S

0.384

-

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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