Variant Results

or

Results for "AGAP1"

Variant Events: 99

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

AGAP1

1-0495-003

chr2:
236739972-236739972

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU3124304

chr2:
236796473-236796473

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

DEASD_0073_001

chr2:
236658972-236658972

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

AGAP1

1-0483-003

chr2:
236444956-236444996

CACACACACAGCAGGACCCTGGGGTTTGTGTGTGGCATCCT

C

intronic

De novo

-

Yuen2016 G

AGAP1

2-1308-003

chr2:
237041147-237041147

C

T

downstream

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AGAP1

1-0067-005

chr2:
236869983-236869983

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU3782302

chr2:
236579776-236579776

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-0296-003

chr2:
237047780-237047780

A

AT

intergenic

De novo

-

Yuen2017 G

AGAP1

AU3175302

chr2:
236852869-236852869

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

10C108733

chr2:
236579103-236579103

G

A

intronic

De novo

-

Fu2022 E

AGAP1

AU3605303

chr2:
236531798-236531798

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-0022-005

chr2:
236613015-236613015

G

A

intronic

De novo

-

Yuen2017 G

AGAP1

2-1306-003

chr2:
236413891-236413891

C

CT

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1336-004

chr2:
237051396-237051396

T

C

intergenic

De novo

-

Yuen2017 G

AGAP1

1-0935-003

chr2:
236844525-236844525

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU2139303

chr2:
237028382-237028382

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1386-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AGAP1

1-0148-005

chr2:
236961370-236961370

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1186-003

chr2:
236535267-236535267

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AGAP1

AU011604

chr2:
236976196-236976196

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

7-0320-003

chr2:
236430344-236430344

C

T

intronic

De novo

-

Trost2022 G

AGAP1

7-0333-003

chr2:
236435929-236435929

A

G

intronic

De novo

-

Trost2022 G

AGAP1

2-0139-004

chr2:
236411068-236411068

T

C

intronic

De novo

-

Trost2022 G

AGAP1

MT_195.3

chr2:
236424176-236424176

C

T

intronic

De novo

-

Trost2022 G

AGAP1

1-0928-003

chr2:
236554622-236554622

A

ATG

intronic

De novo

-

Trost2022 G

AGAP1

5-5046-004

chr2:
236562957-236562957

A

G

intronic

De novo

-

Trost2022 G

AGAP1

1028

chr2:
236488277-236488277

G

A

intronic

De novo

-

Trost2022 G

AGAP1

1-1058-004

chr2:
236511180-236511180

C

T

intronic

De novo

-

Trost2022 G

AGAP1

1033

chr2:
236450180-236450180

C

T

intronic

De novo

-

Trost2022 G

AGAP1

1-0203-003

chr2:
236457937-236457937

G

C

intronic

De novo

-

Trost2022 G

AGAP1

AU3764302

chr2:
237009639-237009639

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-0160-003

chr2:
236437836-236437836

G

A

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00049-003

chr2:
236447995-236447995

C

T

intronic

De novo

-

Trost2022 G

AGAP1

7-0094-003

chr2:
236654137-236654137

C

T

intronic

De novo

-

Trost2022 G

AGAP1

1-1103-003

chr2:
236679186-236679186

G

A

intronic

De novo

-

Trost2022 G

AGAP1

1-0695-003

chr2:
236625117-236625117

G

A

intronic

De novo

-

Trost2022 G

AGAP1

4-0054-003

chr2:
236627310-236627310

A

G

intronic

De novo

-

Trost2022 G

AGAP1

5-5177-003

chr2:
236605634-236605634

A

T

intronic

De novo

-

Trost2022 G

AGAP1

AU003403

chr2:
237031786-237031786

C

A

intronic

De novo

-

Yuen2017 G

AGAP1

MSSNG00016-003

chr2:
236620454-236620454

C

T

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00084-003

chr2:
236563364-236563364

A

G

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00328-003

chr2:
236569608-236569608

T

C

intronic

De novo

-

Trost2022 G

AGAP1

AM04ZF-03

chr2:
236711622-236711622

T

G

intronic

De novo

-

Trost2022 G

AGAP1

3-0515-000

chr2:
236751617-236751617

C

T

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00411-003

chr2:
236709873-236709873

A

T

intronic

De novo

-

Trost2022 G

AGAP1

3-0129-000

chr2:
236711622-236711622

T

G

intronic

De novo

-

Trost2022 G

AGAP1

1-0260-004

chr2:
236706023-236706023

C

T

intronic

De novo

-

Trost2022 G

AGAP1

REACH000154

chr2:
236707880-236707880

C

T

intronic

De novo

-

Trost2022 G

AGAP1

2-1286-003

chr2:
236679488-236679489

AA

TT

intronic

De novo

-

Trost2022 G

AGAP1

7-0361-003

chr2:
236698000-236698000

C

T

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00001-004

chr2:
236806040-236806040

A

G

intronic

De novo

-

Trost2022 G

AGAP1

AU038703

chr2:
236852554-236852554

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

4-0025-003

chr2:
236823715-236823715

C

T

intronic

De novo

-

Trost2022 G

AGAP1

1-1212-003

chr2:
236795513-236795513

A

G

intronic

De novo

-

Trost2022 G

AGAP1

1-1202-003

chr2:
236800220-236800220

G

A

intronic

De novo

-

Trost2022 G

AGAP1

3-0826-000

chr2:
236786870-236786870

C

T

intronic

De novo

-

Trost2022 G

AGAP1

3-0826-000

chr2:
236789124-236789124

A

T

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00391-003

chr2:
236757882-236757882

A

G

intronic

De novo

-

Trost2022 G

AGAP1

REACH000731

chr2:
236761200-236761200

A

G

intronic

De novo

-

Trost2022 G

AGAP1

MSSNG00369-003

chr2:
236951371-236951372

AG

A

intronic

De novo

-

Trost2022 G

AGAP1

1-0944-003

chr2:
236980037-236980037

A

G

intronic

De novo

-

Trost2022 G

AGAP1

2-1467-003

chr2:
236878535-236878535

A

T

intronic

De novo

-

Trost2022 G

AGAP1

7-0457-003

chr2:
236908031-236908031

G

C

intronic

De novo

-

Trost2022 G

AGAP1

P2M7G_01

chr2:
236851559-236851559

T

C

intronic

De novo

-

Trost2022 G

AGAP1

5-1012-003

chr2:
236874517-236874517

C

T

intronic

De novo

-

Trost2022 G

AGAP1

2-1401-003

chr2:
236840637-236840637

T

G

intronic

De novo

-

Trost2022 G

AGAP1

5-5064-003

chr2:
236847041-236847041

G

A

intronic

De novo

-

Trost2022 G

AGAP1

2-1306-004

chr2:
236413891-236413891

C

CT

intronic

De novo

-

Yuen2017 G

AGAP1

1-0010-005

chr2:
236796932-236796932

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU3846303

chr2:
236661885-236661885

G

A

intronic

De novo

-

Yuen2017 G

AGAP1

3-0174-000

chr2:
237022905-237022905

C

T

intronic

De novo

-

Trost2022 G

AGAP1

2-1807-003

chr2:
237039252-237039252

G

A

UTR3

De novo

-

Trost2022 G

AGAP1

1-1204-003

chr2:
236993785-236993785

G

A

intronic

De novo

-

Trost2022 G

AGAP1

7-0227-003

chr2:
237006084-237006084

T

TGGAGTGCA

intronic

De novo

-

Trost2022 G

AGAP1

11000.p1

chr2:
237029030-237029030

G

A

exonic

De novo

nonsynonymous SNV

NM_014914
NM_001037131

c.G2150A
c.G2309A

p.R717H
p.R770H

35.0

1.729E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

AGAP1

1-0294-003

chr2:
236791026-236791028

TCT

TCTCCT

intronic

De novo

-

Yuen2017 G

AGAP1

AU078503

chr2:
236411730-236411730

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU4149301

chr2:
236591293-236591293

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

1-0193-003

chr2:
236876069-236876069

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

1-0585-003

chr2:
236686357-236686357

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1355-003

chr2:
236984705-236984705

G

A

intronic

De novo

-

Yuen2017 G

AGAP1

SSC02254

chr2:
237029030-237029030

G

A

exonic

De novo

nonsynonymous SNV

NM_014914
NM_001037131

c.G2150A
c.G2309A

p.R717H
p.R770H

35.0

1.729E-5

Fu2022 E
Lim2017 E
Trost2022 G

AGAP1

1-0032-003

chr2:
236872461-236872463

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1629-003

chr2:
236552609-236552609

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

2-1303-003

chr2:
236843606-236843606

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGAP1

AU2427301

chr2:
236978919-236978919

G

A

intronic

De novo

-

Yuen2017 G

AGAP1

1-0985-003

chr2:
237031246-237031250

ACTCT

ACT

intronic

De novo

-

Yuen2017 G

AGAP1

3-0448-000

chr2:
236932550-236932550

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU4159302

chr2:
236408577-236408577

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

1-0244-003

chr2:
236834258-236834258

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGAP1

1-0141-003

chr2:
236680107-236680107

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

Cukier2014:17478

chr2:
236659033-236659033

G

A

exonic

Unknown

nonsynonymous SNV

NM_001037131
NM_001244888
NM_014914

c.G574A
c.G574A
c.G574A

p.D192N
p.D192N
p.D192N

29.8

4.118E-5

Cukier2014 E

AGAP1

1-0579-003

chr2:
237069760-237069760

C

T

intergenic

De novo

-

Yuen2017 G

AGAP1

AU3937301

chr2:
236474154-236474155

GC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

AU028305

chr2:
236866372-236866372

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

SP0085174

chr2:
236658991-236658991

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AGAP1

AU047704

chr2:
236772381-236772381

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGAP1

74-0688

chr2:
236984963-236984963

G

A

intronic

De novo

-

Michaelson2012 G

AGAP1

SP0083961

chr2:
236949498-236949498

G

GTCTGAAGGTCGCTTTAAAAGGAAAGCCATCC

intronic

De novo

-

8.265E-6

Fu2022 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
	More