Variant Results

or

Results for "FRY"

Variant Events: 40

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

FRY

1-0489-003

chr13:
32718363-32718363

A

C

intronic

De novo

-

Yuen2016 G

FRY

SP0100115

chr13:
32783194-32783194

C

T

exonic

De novo

nonsynonymous SNV

NM_023037

c.C4223T

p.S1408F

28.6

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FRY

iHART2862

chr13:
32868559-32868560

AG

A

exonic

Maternal

frameshift deletion

NM_023037

c.8636delG

p.S2879fs

-

Ruzzo2019 G

FRY

11060.p1

chr13:
32768371-32768371

A

AC

exonic

De novo

frameshift insertion

NM_023037

c.3684dupC

p.Y1228fs

-

Wilfert2021 G
Zhou2022 GE

FRY

111317

chr13:
32799158-32799158

C

T

exonic

nonsynonymous SNV

NM_023037

c.C5005T

p.H1669Y

25.8

-

Woodbury-Smith2022 E

FRY

SP0017364

chr13:
32836619-32836619

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FRY

AU3727302

chr13:
32658149-32658149

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRY

12647.p1

chr13:
32832110-32832110

G

A

intronic

De novo

-

Wilfert2021 G

FRY

SP0114096

chr13:
32792915-32792915

G

A

exonic

De novo

nonsynonymous SNV

NM_023037

c.G4712A

p.R1571H

33.0

4.987E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

FRY

SP0132213

chr13:
32698991-32698991

T

C

exonic

De novo

nonsynonymous SNV

NM_023037

c.T695C

p.I232T

15.87

2.484E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

FRY

SP0143737

chr13:
32805442-32805442

T

G

intronic

De novo

-

Fu2022 E

FRY

SP0001493

chr13:
32869475-32869475

G

A

exonic

De novo

nonsynonymous SNV

NM_023037

c.G8920A

p.E2974K

16.63

8.295E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

FRY

2-1567-004

chr13:
32792847-32792849

CAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRY

Cukier2014:17678

chr13:
32785102-32785102

G

A

exonic

Unknown

nonsynonymous SNV

NM_023037

c.G4522A

p.V1508I

18.81

5.0E-4

Cukier2014 E

FRY

AU070007

chr13:
32821755-32821755

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRY

1-0347-003

chr13:
32726765-32726765

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRY

IGM8204

chr13:
32759075-32759075

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

FRY

4-0073-003

chr13:
32620134-32620134

G

C

intronic

De novo

-

Trost2022 G

FRY

SSC05418

chr13:
32832110-32832110

G

A

intronic

-

Antaki2022 GE

FRY

SSC02037

chr13:
32768371-32768371

A

AC

exonic

frameshift insertion

NM_023037

c.3684dupC

p.Y1228fs

-

Antaki2022 GE

FRY

SP0051150

chr13:
32841303-32841303

C

A

intronic

De novo

-

Trost2022 G

FRY

AU3124302

chr13:
32773529-32773529

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRY

2-1373-003

chr13:
32699273-32699273

C

T

intronic

De novo

-

Yuen2016 G

FRY

SSC02501

chr13:
32852714-32852714

T

C

intronic

De novo

-

Trost2022 G

FRY

3-0339-000

chr13:
32758755-32758755

C

T

exonic

De novo

nonsynonymous SNV

NM_023037

c.C3073T

p.R1025W

18.56

-

Trost2022 G
Zhou2022 GE

FRY

2-1430-005A

chr13:
32793516-32793516

G

A

intronic

De novo

-

Trost2022 G

FRY

7-0328-003

chr13:
32833889-32833889

C

T

intronic

De novo

-

Trost2022 G

FRY

AU046506

chr13:
32755726-32755726

A

T

intronic

De novo

-

Trost2022 G

FRY

X3N7Y_01

chr13:
32765154-32765154

C

T

intronic

De novo

-

Trost2022 G

FRY

3-0465-000

chr13:
32638113-32638113

T

C

intronic

De novo

-

Trost2022 G

FRY

SJD_79.3

chr13:
32738754-32738754

T

TAATATGGCCAAGTGTGAGA

intronic

De novo

-

Trost2022 G

FRY

AU041A

chr13:
32698445-32698445

T

A

exonic

De novo

nonsynonymous SNV

NM_023037

c.T487A

p.L163I

16.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FRY

AU02103

chr13:
32761742-32761742

T

C

exonic

De novo

synonymous SNV

NM_023037

c.T3540C

p.D1180D

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FRY

SP0060727

chr13:
32813948-32813948

A

G

exonic

nonsynonymous SNV

NM_023037

c.A6617G

p.N2206S

12.39

1.657E-5

Zhou2022 GE

FRY

5-0012-003

chr13:
32802630-32802630

G

A

exonic

De novo

synonymous SNV

NM_023037

c.G5244A

p.P1748P

-

2.484E-5

Trost2022 G
Zhou2022 GE

FRY

11561.p1

chr13:
32852714-32852714

T

C

intronic

De novo

-

Satterstrom2020 E

FRY

1-0541-005

chr13:
32852676-32852676

C

T

exonic

synonymous SNV

NM_023037

c.C8460T

p.S2820S

-

1.656E-5

Zhou2022 GE

FRY

mAGRE2862

chr13:
32868559-32868560

AG

A

exonic

Maternal

frameshift deletion

NM_023037

c.8636delG

p.S2879fs

-

Cirnigliaro2023 G

FRY

1-0153-005

chr13:
32701655-32701655

C

CTG

intronic

De novo

-

Yuen2017 G

FRY

AU4069301

chr13:
32753806-32753806

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

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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