Variant Results

or

Results for "THSD7A"

Variant Events: 84

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

THSD7A

1-1000-003

chr7:
11957936-11957936

C

G

intergenic

De novo

-

Yuen2017 G

THSD7A

7-0256-003

chr7:
12118269-12118269

G

T

intergenic

De novo

-

Yuen2017 G

THSD7A

7-0273-003

chr7:
12037433-12037433

T

C

intergenic

De novo

-

Yuen2017 G

THSD7A

1-0469-005

chr7:
11905031-11905031

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

SP0035786

chr7:
11582590-11582590

T

G

exonic

De novo

nonsynonymous SNV

NM_015204

c.A1608C

p.K536N

20.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

THSD7A

1-0175-003

chr7:
12128322-12128322

C

T

intergenic

De novo

-

Yuen2017 G

THSD7A

SP0043716

chr7:
11416284-11416284

T

A

exonic

De novo

nonsynonymous SNV

NM_015204

c.A4802T

p.D1601V

23.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

THSD7A

MT_178.3

chr7:
11469714-11469714

T

G

intronic

De novo

-

Trost2022 G

THSD7A

MSSNG00013-004

chr7:
11515223-11515223

A

C

intronic

De novo

-

Trost2022 G

THSD7A

MT_165.3

chr7:
11457662-11457662

C

T

intronic

De novo

-

Trost2022 G

THSD7A

SP0005413

chr7:
11464486-11464486

A

C

intronic

De novo

-

Trost2022 G

THSD7A

AU2310301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

THSD7A

7-0457-003

chr7:
11450292-11450293

GT

G

intronic

De novo

-

Trost2022 G

THSD7A

SP0225203

chr7:
11418759-11418759

G

T

exonic

De novo

nonsynonymous SNV

NM_015204

c.C4739A

p.T1580N

27.4

-

Trost2022 G

THSD7A

MSSNG00422-003

chr7:
11430486-11430486

G

A

intronic

De novo

-

Trost2022 G

THSD7A

MSSNG00406-003

chr7:
11655666-11655666

A

G

intronic

De novo

-

Trost2022 G

THSD7A

MSSNG00026-004

chr7:
11664714-11664714

G

C

intronic

De novo

-

Trost2022 G

THSD7A

AU3636301

chr7:
11614335-11614335

T

C

intronic

De novo

-

Trost2022 G

THSD7A

1-1105-005

chr7:
11620083-11620083

A

G

intronic

De novo

-

Trost2022 G

THSD7A

1-0107-003

chr7:
12138146-12138147

AT

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

THSD7A

AU045514

chr7:
12006347-12006347

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

3-0211-000

chr7:
11580103-11580103

G

A

intronic

De novo

-

Trost2022 G

THSD7A

13042.p1

chr7:
11487022-11487022

G

A

exonic

De novo

stopgain

NM_015204

c.C2635T

p.Q879X

42.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

THSD7A

MSSNG00253-003

chr7:
11611984-11611984

A

G

intronic

De novo

-

Trost2022 G

THSD7A

1014

chr7:
11541380-11541380

C

A

intronic

De novo

-

Trost2022 G

THSD7A

SSC06614

chr7:
11487022-11487022

G

A

exonic

De novo

stopgain

NM_015204

c.C2635T

p.Q879X

42.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

THSD7A

4-0086-003

chr7:
11578938-11578938

A

G

intronic

De novo

-

Trost2022 G

THSD7A

2-1380-003

chr7:
12128965-12128967

CAG

C

intergenic

De novo

-

Yuen2016 G

THSD7A

AU004403

chr7:
11740741-11740741

A

T

intronic

De novo

-

Trost2022 G

THSD7A

1-1217-003

chr7:
11744456-11744456

T

G

intronic

De novo

-

Trost2022 G

THSD7A

7-0329-003

chr7:
11726459-11726459

A

G

intronic

De novo

-

Trost2022 G

THSD7A

MT_6.3

chr7:
11734656-11734656

T

C

intronic

De novo

-

Trost2022 G

THSD7A

3-0346-000

chr7:
11702225-11702225

G

A

intronic

De novo

-

Trost2022 G

THSD7A

4-0073-003

chr7:
11714976-11714976

C

T

intronic

De novo

-

Trost2022 G

THSD7A

AU465

chr7:
11441521-11441521

A

G

exonic

De novo

nonsynonymous SNV

NM_015204

c.T4312C

p.F1438L

21.6

-

Fu2022 E

THSD7A

SP0199238

chr7:
11675923-11675923

C

T

exonic

De novo

nonsynonymous SNV

NM_015204

c.G856A

p.D286N

1.201

-

Trost2022 G

THSD7A

2-0098-003

chr7:
12201428-12201428

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

THSD7A

2-1821-003

chr7:
11676994-11676994

G

A

intronic

De novo

-

Trost2022 G

THSD7A

5-5007-003

chr7:
11855779-11855779

G

T

intronic

De novo

-

Trost2022 G

THSD7A

2-1507-003

chr7:
11610984-11610984

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

AU2194301

chr7:
11866608-11866608

A

T

intronic

De novo

-

Trost2022 G

THSD7A

5-5111-003

chr7:
11839758-11839758

C

T

intronic

De novo

-

Trost2022 G

THSD7A

3-0199-000

chr7:
11852866-11852866

C

T

intronic

De novo

-

Trost2022 G

THSD7A

2-1295-003

chr7:
12151106-12151106

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

THSD7A

2-1764-004

chr7:
11812197-11812197

G

A

intronic

De novo

-

Trost2022 G

THSD7A

REACH000150

chr7:
11835591-11835591

T

C

intronic

De novo

-

Trost2022 G

THSD7A

REACH000288

chr7:
11775847-11775847

G

A

intronic

De novo

-

Trost2022 G

THSD7A

1-0511-003

chr7:
11831913-11831913

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

3-0434-000

chr7:
11942768-11942768

C

T

intergenic

De novo

-

Yuen2016 G

THSD7A

3-0095-000

chr7:
11793477-11793477

G

T

intronic

De novo

-

Trost2022 G

THSD7A

2-1594-003

chr7:
11559581-11559581

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

7-0333-003

chr7:
11872524-11872524

C

CA

upstream

De novo

-

Trost2022 G

THSD7A

1-0075-003

chr7:
11816829-11816829

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

AU031003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

2-1506-003

chr7:
12046477-12046490

AATATATATATATA

AATATATATATA

intergenic

De novo

-

Yuen2017 G

THSD7A

13558.p1

chr7:
11485770-11485770

G

A

exonic

Mosaic

synonymous SNV

NM_015204

c.C2982T

p.C994C

-

Dou2017 E
Krupp2017 E

THSD7A

AU074503

chr7:
11661244-11661244

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

1-0524-003

chr7:
11953511-11953511

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

1-0469-003

chr7:
11822290-11822290

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

EGAN00001101085

chr7:
11521470-11521470

C

A

exonic

De novo

synonymous SNV

NM_015204

c.G1962T

p.T654T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

THSD7A

2-1402-003

chr7:
11656860-11656860

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

2-1725-003

chr7:
12033788-12033788

T

A

intergenic

De novo

-

Yuen2017 G

THSD7A

13864.p1

chr7:
11676395-11676395

A

G

exonic

Mosaic Mat.

synonymous SNV

NM_015204

c.T384C

p.P128P

-

1.0E-4

Dou2017 E

THSD7A

11341.p1

chr7:
11619048-11619048

A

C

intronic

De novo

-

Turner2016 G

THSD7A

1-0010-003

chr7:
12229746-12229746

G

A

intergenic

De novo

-

Yuen2017 G

THSD7A

2-1066-003

chr7:
11741240-11741240

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

2-1350-004

chr7:
11511285-11511285

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

11C119372

chr7:
11633102-11633102

C

A

exonic

De novo

nonsynonymous SNV

NM_015204

c.G1050T

p.M350I

10.3

8.29E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

THSD7A

2-1383-003

chr7:
12179229-12179229

T

C

intergenic

De novo

-

Yuen2017 G

THSD7A

AU3371302

chr7:
12245958-12245958

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

AU009904

chr7:
12100556-12100556

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

5-0015-004

chr7:
12002463-12002463

T

C

intergenic

De novo

-

Yuen2017 G

THSD7A

2-0305-004

chr7:
12108077-12108077

T

C

intergenic

De novo

-

Yuen2017 G

THSD7A

1-0226-005

chr7:
11433020-11433020

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

AU2951302

chr7:
11918907-11918907

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

2-1399-003

chr7:
11930698-11930698

A

G

intergenic

De novo

-

Yuen2017 G

THSD7A

5-0077-003

chr7:
11450340-11450340

C

CTGTT

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

AU1725306

chr7:
12136311-12136311

T

C

intergenic

De novo

-

Yuen2017 G

THSD7A

1-0175-004

chr7:
12128322-12128322

C

T

intergenic

De novo

-

Yuen2017 G

THSD7A

2-1154-003

chr7:
11626054-11626054

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

THSD7A

7-0080-003

chr7:
12056068-12056068

C

A

intergenic

De novo

-

Yuen2017 G

THSD7A

2-1318-004

chr7:
11518308-11518308

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

THSD7A

AU4159302

chr7:
11605788-11605793

CATTAT

CAT

intronic

De novo

-

Yuen2017 G

THSD7A

2-1646-003

chr7:
11766042-11766042

G

T

intronic

De novo

-

Trost2022 G
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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