Variant Results

or

Results for "FREM3"

Variant Events: 28

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

FREM3

5-0083-003

chr4:
144739799-144739799

C

T

intergenic

De novo

-

Yuen2017 G

FREM3

1-0757-003

chr4:
144532710-144532710

T

G

intronic

De novo

-

Yuen2017 G

FREM3

11074_p1

chr4:
144620325-144620325

G

A

exonic

De novo

stopgain

NM_001168235

c.C1504T

p.R502X

25.3

-

Fu2022 E

FREM3

3-0456-000

chr4:
144772001-144772001

T

C

intergenic

De novo

-

Yuen2017 G

FREM3

3-0456-000

chr4:
144772009-144772009

A

G

intergenic

De novo

-

Yuen2017 G

FREM3

12449.p1

chr4:
144619732-144619732

A

G

exonic

De novo

synonymous SNV

NM_001168235

c.T2097C

p.D699D

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G

FREM3

3-0456-000

chr4:
144772054-144772054

A

G

intergenic

De novo

-

Yuen2017 G

FREM3

AU4150301

chr4:
144643926-144643926

A

G

intergenic

De novo

-

Yuen2017 G

FREM3

1-0441-003

chr4:
144790473-144790473

C

A

intergenic

De novo

-

Yuen2017 G

FREM3

2-1166-003

chr4:
144614971-144614971

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FREM3

AU000704

chr4:
144513862-144513862

A

G

intronic

De novo

-

Yuen2017 G

FREM3

1-0508-003

chr4:
144709525-144709525

A

G

intergenic

De novo

-

Yuen2017 G

FREM3

iHART2559

chr4:
144618772-144618772

A

C

exonic

Maternal

stopgain

NM_001168235

c.T3057G

p.Y1019X

40.0

3.0E-4

Ruzzo2019 G

FREM3

7-0078-003

chr4:
144670298-144670321

GAAAGAAAAGAAAAGAAAAGAAAA

GAAAGAAAAGAAAAGAAAA

intergenic

De novo

-

Yuen2017 G

FREM3

2-1502-003

chr4:
144558701-144558701

G

A

intronic

De novo

-

Yuen2017 G

FREM3

AU4233301

chr4:
144777729-144777729

G

C

intergenic

De novo

-

Yuen2017 G

FREM3

SSC05051

chr4:
144619732-144619732

A

G

exonic

De novo

synonymous SNV

NM_001168235

c.T2097C

p.D699D

-

Fu2022 E
Lim2017 E

FREM3

2-0182-003

chr4:
144525203-144525203

C

A

intronic

De novo

-

Yuen2017 G

FREM3

2-0296-004

chr4:
144660141-144660141

C

T

intergenic

De novo

-

Yuen2017 G

FREM3

2-1720-003

chr4:
144610586-144610586

C

T

intronic

De novo

-

Yuen2017 G

FREM3

7-0024-005

chr4:
144573477-144573477

G

A

intronic

De novo

-

Yuen2017 G

FREM3

1-0206-005

chr4:
144504433-144504433

T

C

intronic

De novo

-

Yuen2017 G

FREM3

1-0651-003

chr4:
144679393-144679393

A

G

intergenic

De novo

-

Yuen2017 G

FREM3

AU4067303

chr4:
144756978-144756993

GTTTGTTTCTTTGTTT

GTTTGTTT

intergenic

De novo

-

Yuen2017 G

FREM3

SP0111768

chr4:
144617381-144617381

A

G

exonic

De novo

nonsynonymous SNV

NM_001168235

c.T4448C

p.I1483T

16.35

4.823E-5

Fu2022 E

FREM3

11074.p1

chr4:
144620325-144620325

G

A

exonic

De novo

stopgain

NM_001168235

c.C1504T

p.R502X

25.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

FREM3

A1

chr4:
144629728-144629728

G

T

intergenic

De novo

-

Wu2018 G

FREM3

13277.p1

chr4:
144700392-144700392

G

A

intergenic

De novo

-

Iossifov2014 E
Kosmicki2017 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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