Variant Results

or

Results for "GPC5"

Variant Events: 85

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

GPC5

AU3263302

chr13:
93331866-93331866

T

A

intronic

De novo

-

Yuen2017 G

GPC5

2-1261-003

chr13:
92261273-92261273

A

AAAAAAAAAAAG

intronic

De novo

-

Yuen2017 G

GPC5

1-0459-004

chr13:
92844830-92844830

T

A

intronic

De novo

-

Yuen2017 G

GPC5

2-1308-003

chr13:
92082094-92082094

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

7-0140-003

chr13:
92159232-92159232

A

G

intronic

De novo

-

Yuen2017 G

GPC5

AU066104

chr13:
92703351-92703352

AC

A

intronic

De novo

-

Yuen2017 G

GPC5

2-1382-003

chr13:
93275849-93275849

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

13980.p1

chr13:
92101155-92101155

C

A

exonic

De novo

synonymous SNV

NM_004466

c.C304A

p.R102R

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

GPC5

11042.p1

chr13:
92345513-92345513

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_004466

c.T398C

p.M133T

18.43

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E

GPC5

AU055004

chr13:
92613515-92613515

T

A

intronic

De novo

-

Yuen2017 G

GPC5

1-0755-003

chr13:
92804225-92804225

T

C

intronic

De novo

-

Yuen2017 G

GPC5

1-0755-003

chr13:
92789692-92789692

A

G

intronic

De novo

-

Yuen2017 G

GPC5

AU4006302

chr13:
92912158-92912158

G

A

intronic

De novo

-

Yuen2017 G

GPC5

AU4462302

chr13:
93636306-93636306

C

T

intergenic

De novo

-

Yuen2017 G

GPC5

12449.p1

chr13:
92342962-92342962

G

A

intronic

De novo

-

Turner2016 G

GPC5

1-0906-003

chr13:
92645574-92645574

C

T

intronic

De novo

-

Yuen2017 G

GPC5

2-0144-004

chr13:
92097404-92097404

A

AT

intronic

De novo

-

Yuen2017 G

GPC5

1-0567-004

chr13:
92881766-92881766

C

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0567-004

chr13:
92798902-92798902

T

C

intronic

De novo

-

Yuen2017 G

GPC5

2-1305-003

chr13:
92869624-92869624

C

A

intronic

De novo

-

Yuen2016 G

GPC5

2-1093-009

chr13:
92117983-92117983

T

A

intronic

De novo

-

Yuen2017 G

GPC5

AU2000304

chr13:
92845407-92845407

G

A

intronic

De novo

-

Yuen2017 G

GPC5

2-1093-009

chr13:
92117209-92117209

C

T

intronic

De novo

-

Yuen2017 G

GPC5

AU3702307

chr13:
92810260-92810260

A

C

intronic

De novo

-

Yuen2017 G

GPC5

AU3764302

chr13:
93479107-93479107

G

T

intronic

De novo

-

Yuen2017 G

GPC5

AU4283301

chr13:
92304371-92304371

C

T

intronic

De novo

-

Yuen2017 G

GPC5

AU036203

chr13:
92409437-92409437

C

G

intronic

De novo

-

Yuen2017 G

GPC5

1-0377-003

chr13:
92497716-92497716

A

G

intronic

De novo

-

Yuen2017 G

GPC5

2-0238-003

chr13:
93667095-93667095

A

G

intergenic

De novo

-

Yuen2017 G

GPC5

7-0151-003

chr13:
92776137-92776137

T

G

intronic

De novo

-

Yuen2017 G

GPC5

2-1174-005B

chr13:
92368469-92368469

C

G

intronic

De novo

-

Yuen2017 G

GPC5

AU038703

chr13:
93468759-93468759

A

G

intronic

De novo

-

Yuen2017 G

GPC5

2-1407-003

chr13:
92579163-92579163

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

2-0135-003

chr13:
92347288-92347288

T

C

intronic

De novo

-

Yuen2017 G

GPC5

AU057405

chr13:
93006838-93006838

C

G

intronic

De novo

-

Yuen2017 G

GPC5

AU3912301

chr13:
92926446-92926446

T

C

intronic

De novo

-

Yuen2017 G

GPC5

1-0572-003

chr13:
92915505-92915505

A

T

intronic

De novo

-

Yuen2017 G

GPC5

AU3846303

chr13:
92114875-92114877

TAA

TA

intronic

De novo

-

Yuen2017 G

GPC5

AU3858303

chr13:
93164764-93164764

C

T

intronic

De novo

-

Yuen2017 G

GPC5

2-1645-003

chr13:
93079021-93079021

G

A

intronic

De novo

-

Yuen2017 G

GPC5

AU4465303

chr13:
93105121-93105121

A

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0222-003

chr13:
93692036-93692036

C

A

intergenic

De novo

-

Yuen2017 G

GPC5

2-0144-003

chr13:
92097404-92097404

A

AT

intronic

De novo

-

Yuen2017 G

GPC5

AU2019302

chr13:
92323995-92323995

A

G

intronic

De novo

-

Yuen2017 G

GPC5

3-0209-000

chr13:
92334410-92334410

C

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0181-004

chr13:
92882727-92882727

A

G

intronic

De novo

-

Yuen2017 G

GPC5

1-0439-003

chr13:
92507466-92507466

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

AU4444304

chr13:
93262081-93262081

C

T

intronic

De novo

-

Yuen2017 G

GPC5

AU2975302

chr13:
92969367-92969367

G

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0439-003

chr13:
92316965-92316965

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

2-1518-003

chr13:
92502517-92502517

C

T

intronic

De novo

-

Yuen2017 G

GPC5

AU4029302

chr13:
93182491-93182491

A

C

intronic

De novo

-

Yuen2017 G

GPC5

1-0923-003

chr13:
93014305-93014311

ATAACTA

ATA

intronic

De novo

-

Yuen2017 G

GPC5

AU070007

chr13:
92416920-92416920

C

G

intronic

De novo

-

Yuen2017 G

GPC5

AU3692302

chr13:
93196007-93196013

ATTTTTT

ATTTTTTT

intronic

De novo

-

Yuen2017 G

GPC5

2-1261-004

chr13:
92261273-92261273

A

AAAG

intronic

De novo

-

Yuen2017 G

GPC5

1-0375-003

chr13:
92224910-92224910

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

A12

chr13:
92932490-92932493

AGTT

A

intronic

De novo

-

Wu2018 G

GPC5

AU3801301

chr13:
92240566-92240566

A

G

intronic

De novo

-

Yuen2017 G

GPC5

1-0514-003

chr13:
92373318-92373318

C

T

intronic

De novo

-

Yuen2017 G

GPC5

2-0028-003

chr13:
93090738-93090738

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GPC5

AU1909304

chr13:
92261750-92261750

G

A

intronic

De novo

-

Yuen2017 G

GPC5

5-0046-003

chr13:
92741686-92741693

CAAAAAAA

CAAAAAAAAA

intronic

De novo

-

Yuen2017 G

GPC5

AU4410302

chr13:
93546867-93546867

C

T

intergenic

De novo

-

Yuen2017 G

GPC5

AU2000305

chr13:
93381657-93381657

A

G

intronic

De novo

-

Yuen2017 G

GPC5

AU1795301

chr13:
93068476-93068476

T

C

intronic

De novo

-

Yuen2017 G

GPC5

A32

chr13:
92470187-92470187

A

G

intronic

De novo

-

Wu2018 G

GPC5

2-1170-003

chr13:
92403917-92403917

A

C

intronic

De novo

-

Yuen2017 G

GPC5

1-0004-003

chr13:
92261273-92261273

A

AAAAAAAAG

intronic

De novo

-

Yuen2017 G

GPC5

AU3861303

chr13:
93381794-93381794

T

C

intronic

De novo

-

Yuen2017 G

GPC5

2-1567-003

chr13:
92891677-92891677

A

T

intronic

De novo

-

Yuen2017 G

GPC5

7-0077-003

chr13:
92592023-92592023

C

T

intronic

De novo

-

Yuen2017 G

GPC5

AU3889305

chr13:
92394701-92394701

A

G

intronic

De novo

-

Yuen2017 G

GPC5

A29

chr13:
93516049-93516049

C

T

intronic

De novo

-

Wu2018 G

GPC5

AU076705

chr13:
93451181-93451181

A

C

intronic

De novo

-

Yuen2017 G

GPC5

1-0556-003

chr13:
93404765-93404765

C

A

intronic

De novo

-

Yuen2017 G

GPC5

1-0381-003

chr13:
93673504-93673504

G

A

intergenic

De novo

-

Yuen2017 G

GPC5

AU3057302

chr13:
92058593-92058593

T

A

intronic

De novo

-

Yuen2017 G

GPC5

1-0466-003

chr13:
93040537-93040537

A

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0744-003

chr13:
92736438-92736438

G

A

intronic

De novo

-

Yuen2017 G

GPC5

AU4356302

chr13:
92517843-92517843

C

T

intronic

De novo

-

Yuen2017 G

GPC5

1-0065-005

chr13:
93035287-93035287

C

CATTATATG

intronic

De novo

-

Yuen2017 G

GPC5

2-1735-003

chr13:
93155110-93155110

T

C

intronic

De novo

-

Yuen2017 G

GPC5

AU4054301

chr13:
92137768-92137768

G

A

intronic

De novo

-

Yuen2017 G

GPC5

10C108981

chr13:
92560202-92560202

G

A

exonic

De novo

nonsynonymous SNV

NM_004466

c.G1292A

p.R431H

8.443

8.872E-6

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

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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