Variant Results

or

Results for "FGD3"

Variant Events: 11

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

FGD3

SSC04218

chr9:
95782633-95782633

A

G

exonic

De novo

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.A1421G
c.A1421G
c.A1421G

p.N474S
p.N474S
p.N474S

15.54

-

Fu2022 E
Lim2017 E
Trost2022 G

FGD3

3-0719-001

chr9:
95735236-95735236

C

T

intronic

De novo

-

Trost2022 G

FGD3

1-0541-004

chr9:
95812292-95812293

TA

T

intergenic

De novo

-

Yuen2017 G

FGD3

4-0073-003

chr9:
95763371-95763371

G

A

intronic

De novo

-

Trost2022 G

FGD3

SP0031819

chr9:
95784563-95784563

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

FGD3

Li2017:23092

chr9:
95768370-95768370

G

A

exonic

Unknown

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.G745A
c.G745A
c.G745A

p.E249K
p.E249K
p.E249K

35.0

-

Li2017 T

FGD3

SP0053924

chr9:
95797627-95797627

G

A

exonic

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.G1934A
c.G1931A
c.G1934A

p.R645Q
p.R644Q
p.R645Q

13.35

6.722E-5

Zhou2022 GE

FGD3

12187.p1

chr9:
95782633-95782633

A

G

exonic

De novo

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.A1421G
c.A1421G
c.A1421G

p.N474S
p.N474S
p.N474S

15.54

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FGD3

2-1511-003

chr9:
95796333-95796333

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FGD3

Uddin2014:35

chr9:
95782633-95782633

A

G

exonic

De novo

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.A1421G
c.A1421G
c.A1421G

p.N474S
p.N474S
p.N474S

15.54

-

Uddin2014 E

FGD3

5-0125-003

chr9:
95715650-95715650

G

A

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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