Variant Results

or

or

Results for "FGD6"

Variant Events: 22

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

FGD6

Lim2017:10255

chr12:
95531350-95531350

T

G

exonic

De novo

nonsynonymous SNV

NM_018351

c.A2942C

p.D981A

20.7

-

Lim2017 E

FGD6

1-0329-004

chr12:
95518954-95518954

G

C

intronic

De novo

-

-

Yuen2017 G

FGD6

PN400548

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

AU3605304

chr12:
95589256-95589256

C

T

intronic

De novo

-

-

Yuen2017 G

FGD6

PN400534

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

PN400544

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

1-0652-003

chr12:
95583695-95583699

TAATA

T

intronic

De novo

-

-

Yuen2017 G

FGD6

Cukier2014:37994

chr12:
95604078-95604078

G

A

exonic

Unknown

stopgain

NM_018351

c.C982T

p.Q328X

27.5

-

Cukier2014 E

FGD6

2-1250-003

chr12:
95564574-95564574

A

C

intronic

De novo

-

-

Yuen2017 G

FGD6

PN400480

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

2-1275-003

chr12:
95511521-95511521

T

C

intronic

De novo

-

-

Yuen2017 G

FGD6

PN400287

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

PN400568

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

1-0652-004

chr12:
95583695-95583699

TAATA

T

intronic

De novo

-

-

Yuen2017 G

FGD6

1-0142-005

chr12:
95510016-95510016

T

C

intronic

De novo

-

-

Yuen2017 G

FGD6

PN400367

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

PN400533

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

PN400542

chr12:
95528593-95528593

G

A

exonic

Unknown

nonsynonymous SNV

NM_018351

c.C3004T

p.R1002C

19.31

Leblond2019 E

FGD6

A9

chr12:
95564237-95564237

G

A

intronic

De novo

-

-

Wu2018 G

FGD6

iHART2967

chr12:
95604292-95604292

G

T

exonic

Paternal

stopgain

NM_018351

c.C768A

p.C256X

15.6

-

Ruzzo2019 G

FGD6

10255

chr12:
95531350-95531350

T

G

exonic

De novo

nonsynonymous SNV

NM_018351

c.A2942C

p.D981A

20.7

-

Satterstrom2020 E

FGD6

346-09-111764

chr12:
95603101-95603101

T

C

exonic

De novo

synonymous SNV

NM_018351

c.A1959G

p.Q653Q

-

Satterstrom2020 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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