Variant Results

or

Results for "FGD4"

Variant Events: 21

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

FGD4

iHART2298

chr12:
32754228-32754228

T

C

exonic

De novo

nonsynonymous SNV

NM_001304480
NM_001304481
NM_139241

c.T1043C
c.T962C
c.T707C

p.L348P
p.L321P
p.L236P

20.5

-

Ruzzo2019 G

FGD4

AU4310301

chr12:
32813461-32813461

A

G

intergenic

De novo

-

Yuen2017 G

FGD4

AU4410302

chr12:
32731137-32731137

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FGD4

2-1343-003

chr12:
32660489-32660489

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FGD4

AU3911302

chr12:
32680249-32680249

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FGD4

AU060403

chr12:
32802443-32802443

G

A

intergenic

De novo

-

Yuen2017 G

FGD4

12793.p1

chr12:
32690150-32690150

G

A

intronic

De novo

-

Turner2016 G

FGD4

1-0190-003

chr12:
32786565-32786566

AT

A

exonic

De novo

frameshift deletion

NM_001304480
NM_001304481
NM_139241
NM_001304483
NM_001304484

c.2181delT
c.2100delT
c.1845delT
c.1101delT
c.813delT

p.Y727fs
p.Y700fs
p.Y615fs
p.Y367fs
p.Y271fs

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FGD4

1-0393-003

chr12:
32692607-32692607

T

C

intronic

De novo

-

Yuen2017 G

FGD4

2-1243-003

chr12:
32687479-32687479

G

A

intronic

De novo

-

Trost2022 G

FGD4

1-0141-003

chr12:
32815741-32815741

A

G

intergenic

De novo

-

Yuen2017 G

FGD4

AU2463301

chr12:
32690587-32690587

C

G

intronic

De novo

-

Trost2022 G

FGD4

7-0226-003

chr12:
32648258-32648258

G

A

intronic

De novo

-

Trost2022 G

FGD4

133339

chr12:
32778703-32778703

C

T

exonic

nonsynonymous SNV

NM_001304480
NM_001304481
NM_139241
NM_001304483
NM_001304484

c.C2087T
c.C2006T
c.C1751T
c.C1007T
c.C719T

p.A696V
p.A669V
p.A584V
p.A336V
p.A240V

28.7

-

Woodbury-Smith2022 E

FGD4

MT_22.3

chr12:
32661074-32661074

G

A

intronic

De novo

-

Trost2022 G

FGD4

DEASD_1017_001

chr12:
32734938-32734938

A

G

exonic

De novo

nonsynonymous SNV

NM_001304480
NM_001304481
NM_139241

c.A473G
c.A392G
c.A137G

p.N158S
p.N131S
p.N46S

0.253

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FGD4

1-0445-003

chr12:
32810717-32810717

A

G

intergenic

De novo

-

Yuen2017 G

FGD4

2-0019-004

chr12:
32714924-32714924

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FGD4

2-0158-003

chr12:
32766152-32766152

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FGD4

MSSNG00061-003

chr12:
32720701-32720701

G

A

intronic

De novo

-

Trost2022 G

FGD4

mAGRE2298

chr12:
32754228-32754228

T

C

exonic

De novo

nonsynonymous SNV

NM_001304480
NM_001304481
NM_139241

c.T1043C
c.T962C
c.T707C

p.L348P
p.L321P
p.L236P

20.5

-

Cirnigliaro2023 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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