Variant Results

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Results for "FGGY"

Variant Events: 20

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

FGGY

SSC02627

chr1:
59787330-59787330

G

T

exonic

De novo

nonsynonymous SNV

NM_001113411
NM_001244714
NM_018291

c.G109T
c.G109T
c.G109T

p.A37S
p.A37S
p.A37S

22.6

-

Fu2022 E

FGGY

A22

chr1:
59763665-59763665

A

G

intronic

De novo

-

-

Wu2018 G

FGGY

11216.p1

chr1:
59787330-59787330

G

T

exonic

De novo

nonsynonymous SNV

NM_001113411
NM_001244714
NM_018291

c.G109T
c.G109T
c.G109T

p.A37S
p.A37S
p.A37S

22.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

FGGY

5-0095-003

chr1:
59838057-59838057

A

C

intronic

De novo

-

-

Yuen2017 G

FGGY

A29

chr1:
59936527-59936527

T

C

intronic

De novo

-

-

Wu2018 G

FGGY

AU3913302

chr1:
59875627-59875627

G

A

intronic

De novo

-

-

Yuen2017 G

FGGY

AU3517302

chr1:
60136524-60136524

T

G

intronic

De novo

-

-

Yuen2017 G

FGGY

iHART1168

chr1:
59811957-59811957

C

T

exonic

Maternal

stopgain

NM_001113411
NM_018291

c.C352T
c.C352T

p.R118X
p.R118X

17.93

Ruzzo2019 G

FGGY

11387.p1

chr1:
60106970-60106970

T

G

exonic

Mosaic

nonsynonymous SNV

NM_001113411

c.T1240G

p.Y414D

2.888

-

Krupp2017 E

FGGY

1-0439-003

chr1:
59796731-59796731

T

G

intronic

De novo

-

-

Yuen2017 G

FGGY

12493.p1

chr1:
59763759-59763759

T

G

intronic

De novo

-

-

Turner2016 G

FGGY

1-0590-003

chr1:
59837334-59837334

G

A

intronic

De novo

-

-

Yuen2017 G

FGGY

1-0448-003

chr1:
59981190-59981190

C

T

intronic

De novo

-

-

Yuen2017 G

FGGY

12795.p1

chr1:
59892531-59892531

A

C

intronic

De novo

-

-

Turner2016 G

FGGY

1-0627-003

chr1:
59814510-59814514

CAGAG

CAG

intronic

De novo

-

-

Yuen2017 G

FGGY

2-1163-003

chr1:
59797882-59797882

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FGGY

2-0305-003

chr1:
59888413-59888413

A

G

intronic

De novo

-

-

Yuen2017 G

FGGY

2-1526-004

chr1:
59844483-59844483

G

T

exonic

De novo

synonymous SNV

NM_001244714
NM_001113411
NM_018291

c.G264T
c.G528T
c.G528T

p.S88S
p.S176S
p.S176S

-

-

Yuen2017 G

FGGY

2-1166-003

chr1:
60081949-60081949

C

T

intronic

De novo

-

-

Yuen2017 G

FGGY

AU4284301

chr1:
59785837-59785837

A

G

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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