Variant Results

or

Results for "SRGAP3"

Variant Events: 51

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

SRGAP3

2-1366-004

chr3:
9101547-9101547

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

2-1437-003

chr3:
9189909-9189909

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

PN400455

chr3:
9032348-9032348

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2662T
c.C2734T

p.R888W
p.R912W

20.9

5.0E-4

Leblond2019 E

SRGAP3

2-0223-004

chr3:
9044543-9044543

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

7-0179-003

chr3:
9368636-9368636

T

A

intergenic

De novo

-

Yuen2017 G

SRGAP3

2-1322-004

chr3:
9193026-9193026

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

AU4186302

chr3:
9170177-9170177

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

SP0112522

chr3:
9027529-9027532

GCAC

G

exonic

De novo

nonframeshift deletion

NM_001033117
NM_014850

c.2899_2901del
c.2971_2973del

p.967_967del
p.991_991del

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SRGAP3

SP0024304

chr3:
9166595-9166595

C

A

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G74T
c.G74T

p.R25L
p.R25L

19.66

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SRGAP3

PN400359

chr3:
9032348-9032348

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2662T
c.C2734T

p.R888W
p.R912W

20.9

5.0E-4

Leblond2019 E

SRGAP3

1-0248-003

chr3:
9172552-9172552

T

C

intronic

De novo

-

Yuen2017 G

SRGAP3

7-0329-003

chr3:
9129619-9129619

C

T

intronic

De novo

-

Trost2022 G

SRGAP3

4-0062-003

chr3:
9153296-9153299

GGCC

AGAG

intronic

De novo

-

Trost2022 G

SRGAP3

3-0731-001A

chr3:
9067151-9067151

G

A

intronic

De novo

-

Trost2022 G

SRGAP3

1-0980-003

chr3:
9087767-9087767

A

G

intronic

De novo

-

Trost2022 G

SRGAP3

MT_38.3

chr3:
9051145-9051145

T

C

intronic

De novo

-

Trost2022 G

SRGAP3

1-1161-003

chr3:
9061577-9061577

G

A

intronic

De novo

-

Trost2022 G

SRGAP3

2-1278-003

chr3:
9182219-9182219

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SRGAP3

1-0382-003

chr3:
9026293-9026293

G

A

UTR3

De novo

-

Trost2022 G

SRGAP3

MSSNG00254-004

chr3:
9247779-9247779

T

C

intronic

De novo

-

Trost2022 G

SRGAP3

REACH000145

chr3:
9255146-9255146

C

T

intronic

De novo

-

Trost2022 G

SRGAP3

AU2283301

chr3:
9223378-9223378

C

T

intronic

De novo

-

Trost2022 G

SRGAP3

AU2405301

chr3:
9226351-9226351

A

C

intronic

De novo

-

Trost2022 G

SRGAP3

AU2729301

chr3:
9197868-9197868

G

T

intronic

De novo

-

Trost2022 G

SRGAP3

7-0403-003

chr3:
9217850-9217850

C

T

intronic

De novo

-

Trost2022 G

SRGAP3

14681.p1

chr3:
9036106-9036106

C

T

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G2257A
c.G2329A

p.A753T
p.A777T

35.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
Zhou2022 GE

SRGAP3

1-0218-003

chr3:
9162942-9162942

G

A

intronic

De novo

-

Trost2022 G

SRGAP3

12657.p1

chr3:
9089078-9089078

C

T

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G1405A
c.G1405A

p.E469K
p.E469K

27.3

8.348E-6

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

SRGAP3

MT_67.3

chr3:
9168373-9168375

CAT

C

intronic

De novo

-

Trost2022 G

SRGAP3

M17511

chr3:
9032375-9032375

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2635T
c.C2707T

p.R879W
p.R903W

22.0

1.858E-5

Stessman2017 T

SRGAP3

1-0483-003

chr3:
9399715-9399715

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SRGAP3

SP0001367

chr3:
9055457-9055457

A

G

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.T1811C
c.T1883C

p.I604T
p.I628T

17.12

8.237E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SRGAP3

1-0514-003

chr3:
9375434-9375434

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SRGAP3

2-1702-004

chr3:
9330179-9330179

C

CTAA

intergenic

De novo

-

Yuen2017 G

SRGAP3

PN400349

chr3:
9032348-9032348

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2662T
c.C2734T

p.R888W
p.R912W

20.9

5.0E-4

Leblond2019 E

SRGAP3

AU3716302

chr3:
9356992-9356992

A

G

intergenic

De novo

-

Yuen2017 G

SRGAP3

7-0032-003

chr3:
9136332-9136332

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

AU3698301

chr3:
9124655-9124655

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

AU4191302

chr3:
9246750-9246750

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

AU3636302

chr3:
9317338-9317338

C

G

intergenic

De novo

-

Yuen2017 G

SRGAP3

4-0003-003

chr3:
9057395-9057395

C

A

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G1627T
c.G1699T

p.D543Y
p.D567Y

27.9

-

Trost2022 G
Zhou2022 GE

SRGAP3

1-0744-003

chr3:
9402522-9402522

T

G

intergenic

De novo

-

Yuen2017 G

SRGAP3

SSC05325

chr3:
9089078-9089078

C

T

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G1405A
c.G1405A

p.E469K
p.E469K

27.3

8.348E-6

Fu2022 E
Trost2022 G

SRGAP3

SSC12506

chr3:
9036106-9036106

C

T

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G2257A
c.G2329A

p.A753T
p.A777T

35.0

-

Fu2022 E
Trost2022 G

SRGAP3

1-0197-003

chr3:
9360243-9360245

CCT

C

intergenic

De novo

-

Yuen2017 G

SRGAP3

1-0006-004

chr3:
9341870-9341870

T

TCAC

intergenic

De novo

-

Yuen2017 G

SRGAP3

2-0309-005

chr3:
9031992-9031992

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRGAP3

211-5567-3

chr3:
9036154-9036154

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2209T
c.C2281T

p.R737C
p.R761C

22.7

-

Stessman2017 T

SRGAP3

219-2344-1

chr3:
9036163-9036163

G

A

exonic

Unknown

nonsynonymous SNV

NM_001033117
NM_014850

c.C2200T
c.C2272T

p.R734W
p.R758W

22.9

8.284E-6

Stessman2017 T

SRGAP3

1-0597-003

chr3:
9298393-9298393

T

C

intergenic

De novo

-

Yuen2017 G

SRGAP3

1-0373-003

chr3:
9092037-9092037

C

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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