Variant Results

or

or

Results for "FRYL"

Variant Events: 23

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

FRYL

80001100728

chr4:
48530254-48530254

A

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.T7003A

p.S2335T

15.42

-

Satterstrom2020 E

FRYL

12532.p1

chr4:
48514594-48514594

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_015030

c.A8049C

p.E2683D

12.74

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E

FRYL

1-0554-003

chr4:
48523075-48523075

C

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.G7679A

p.R2560Q

7.459

Yuen2017 G

FRYL

2-1391-003

chr4:
48733330-48733330

C

T

intronic

De novo

-

-

Yuen2017 G

FRYL

579-05-104393

chr4:
48569420-48569420

T

A

exonic

De novo

nonsynonymous SNV

NM_015030

c.A3014T

p.D1005V

17.17

-

Satterstrom2020 E

FRYL

AU038703

chr4:
48756592-48756592

T

C

intronic

De novo

-

-

Yuen2017 G

FRYL

AU3052302

chr4:
48591731-48591731

T

C

intronic

De novo

-

-

Yuen2017 G

FRYL

AU1521301

chr4:
48811543-48811543

A

G

intergenic

De novo

-

-

Yuen2017 G

FRYL

2-0013-003

chr4:
48759264-48759264

G

GGGCA

intronic

De novo

-

-

Yuen2017 G

FRYL

3-0018-000

chr4:
48770764-48770764

C

T

intronic

De novo

-

-

Yuen2017 G

FRYL

AU1909304

chr4:
48788321-48788321

G

A

intergenic

De novo

-

-

Yuen2017 G

FRYL

09C99958A

chr4:
48517342-48517342

T

A

intronic

De novo

-

-

Kosmicki2017 E

FRYL

1-0261-003

chr4:
48529355-48529355

T

C

intronic

De novo

-

-

Yuen2017 G

FRYL

AU4234302

chr4:
48554386-48554386

T

C

intronic

De novo

-

-

Yuen2017 G

FRYL

12237.p1

chr4:
48583513-48583513

C

G

exonic

De novo

nonsynonymous SNV

NM_015030

c.G2096C

p.R699P

24.4

Ji2016 E
Krumm2015 E

FRYL

AU3801301

chr4:
48499687-48499687

C

T

UTR3

De novo

-

-

Yuen2017 G

FRYL

AU4473301

chr4:
48597714-48597714

G

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.C1141A

p.R381S

35.0

-

Yuen2017 G

FRYL

11C120635

chr4:
48563484-48563484

C

T

splicing

De novo

splicing

15.04

-

DeRubeis2014 E
Kosmicki2017 E

FRYL

AU4429301

chr4:
48797473-48797473

C

A

intergenic

De novo

-

-

Yuen2017 G

FRYL

2-1436-003

chr4:
48815166-48815166

C

T

intergenic

De novo

-

-

Yuen2017 G

FRYL

AU2072302

chr4:
48654796-48654796

A

G

intronic

De novo

-

-

Yuen2017 G

FRYL

1-0841-003

chr4:
48755107-48755107

C

A

intronic

De novo

-

-

Yuen2017 G

FRYL

2-0309-004

chr4:
48655106-48655106

C

T

intronic

De novo

-

-

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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