Variant Results

or

Results for "THSD4"

Variant Events: 42

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

THSD4

AU2458303

chr15:
71750833-71750833

T

C

intronic

De novo

-

Yuen2017 G

THSD4

2-1337-003

chr15:
71495324-71495324

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

THSD4

AU3724302

chr15:
71664984-71664984

G

A

intronic

De novo

-

Yuen2017 G

THSD4

SP0020134

chr15:
71839782-71839782

C

T

exonic

De novo

nonsynonymous SNV

NM_001286429

c.C34T

p.H12Y

6.327

-

Fu2022 E

THSD4

SSC10463

chr15:
72050341-72050341

C

T

exonic

De novo

nonsynonymous SNV

NM_001286429
NM_024817

c.C1436T
c.C2516T

p.P479L
p.P839L

32.0

-

Fu2022 E
Lim2017 E

THSD4

SP0091546

chr15:
71704130-71704130

G

A

exonic

De novo

nonsynonymous SNV

NM_024817

c.G1120A

p.G374S

13.08

8.284E-6

Fu2022 E

THSD4

7-0194-003

chr15:
71547872-71547872

C

A

intronic

De novo

-

Yuen2017 G

THSD4

DEASD_0204_001

chr15:
72037418-72037418

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

THSD4

AU066403

chr15:
72022870-72022870

C

T

intronic

De novo

-

Yuen2017 G

THSD4

1-0674-003

chr15:
71845464-71845464

G

A

intronic

De novo

-

Yuen2017 G

THSD4

14160.p1

chr15:
72050341-72050341

C

T

exonic

De novo

nonsynonymous SNV

NM_001286429
NM_024817

c.C1436T
c.C2516T

p.P479L
p.P839L

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G

THSD4

1-0359-003

chr15:
71577355-71577362

GTGTTGTT

GTGTT

intronic

De novo

-

Yuen2017 G

THSD4

AU3768302

chr15:
71449549-71449549

G

A

intronic

De novo

-

Yuen2017 G

THSD4

2-0135-004

chr15:
71562503-71562504

CA

C

intronic

De novo

-

Yuen2017 G

THSD4

1-0022-004

chr15:
71661736-71661736

A

T

intronic

De novo

-

Yuen2017 G

THSD4

1-0404-003

chr15:
71961176-71961176

T

G

intronic

De novo

-

Yuen2017 G

THSD4

AU3703302

chr15:
72064187-72064187

A

C

intronic

De novo

-

Yuen2017 G

THSD4

1-0160-004

chr15:
71491916-71491916

T

TG

intronic

De novo

-

Yuen2017 G

THSD4

2-1408-004

chr15:
71657735-71657735

G

A

intronic

De novo

-

Yuen2017 G

THSD4

2-1352-003

chr15:
71915643-71915643

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

THSD4

1-0028-003

chr15:
71850989-71850989

T

C

intronic

De novo

-

Yuen2017 G

THSD4

2-1338-003

chr15:
71573057-71573064

TTCTGTCT

TTCT

intronic

De novo

-

Yuen2017 G

THSD4

1-0408-003

chr15:
71944619-71944619

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

THSD4

AU3900301

chr15:
71491826-71491845

GGGTGTGTGTGGTGTGTGTG

GGGTGTGTGTG

intronic

De novo

-

Yuen2017 G

THSD4

AU4264302

chr15:
71455568-71455568

G

T

intronic

De novo

-

Yuen2017 G

THSD4

2-0307-003

chr15:
71777350-71777350

G

A

intronic

De novo

-

Yuen2017 G

THSD4

1-0067-005

chr15:
71569088-71569088

G

GATGCATA

intronic

De novo

-

Yuen2017 G

THSD4

1-0296-004

chr15:
71576526-71576526

C

G

intronic

De novo

-

Yuen2017 G

THSD4

AU073006

chr15:
71756304-71756304

C

T

intronic

De novo

-

Yuen2017 G

THSD4

AU2777302

chr15:
72015304-72015304

C

G

intronic

De novo

-

Yuen2017 G

THSD4

1-0259-003

chr15:
71818677-71818677

C

T

intronic

De novo

-

Yuen2017 G

THSD4

Shi2013:2

chr15:
71507377-71507377

C

T

exonic

Inherited

nonsynonymous SNV

NM_024817

c.C103T

p.P35S

15.65

9.0E-4

Shi2013 G

THSD4

11883-1

chr15:
72041054-72041054

A

G

intronic

De novo

-

Fu2022 E

THSD4

Shi2013:1

chr15:
71507377-71507377

C

T

exonic

Inherited

nonsynonymous SNV

NM_024817

c.C103T

p.P35S

15.65

9.0E-4

Shi2013 G

THSD4

5-0140-003

chr15:
71670310-71670310

C

A

intronic

De novo

-

Yuen2017 G

THSD4

5-0140-003

chr15:
71672027-71672027

G

A

intronic

De novo

-

Yuen2017 G

THSD4

1-0099-003

chr15:
71588100-71588100

A

G

intronic

De novo

-

Yuen2017 G

THSD4

2-1451-004

chr15:
72001301-72001301

C

T

intronic

De novo

-

Yuen2017 G

THSD4

iHART1705

chr15:
72030126-72030127

AC

A

exonic

Paternal

frameshift deletion

NM_001286429
NM_024817

c.607delC
c.1687delC

p.Q203fs
p.Q563fs

-

Ruzzo2019 G

THSD4

1-0067-004

chr15:
71569088-71569088

G

GATGCATA

intronic

De novo

-

Yuen2017 G

THSD4

7-0001-003

chr15:
71926066-71926066

C

T

intronic

De novo

-

Yuen2017 G

THSD4

1-0246-004

chr15:
71723878-71723878

C

T

intronic

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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