Variant Results

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Results for "FCGBP"

Variant Events: 17

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

FCGBP

336-06-106561

chr19:
40433571-40433571

G

A

exonic

De novo

nonsynonymous SNV

NM_003890

c.C698T

p.T233M

12.14

-

Fu2022 E
Satterstrom2020 E

FCGBP

11572.p1

chr19:
40419287-40419287

T

C

intronic

De novo

-

-

Turner2016 G

FCGBP

7-0197-003

chr19:
40375645-40375645

G

A

intronic

De novo

-

-

Yuen2017 G

FCGBP

AU3875301

chr19:
40365114-40365114

T

G

intronic

De novo

-

-

Yuen2017 G

FCGBP

AU4149301

chr19:
40385658-40385658

C

A

intronic

De novo

-

-

Yuen2017 G

FCGBP

12759.p1

chr19:
40408653-40408653

C

T

exonic

De novo

nonsynonymous SNV

NM_003890

c.G4186A

p.D1396N

7.974

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

FCGBP

2-1644-003

chr19:
40433751-40433751

G

A

exonic

De novo

nonsynonymous SNV

NM_003890

c.C518T

p.T173M

1.79

Yuen2017 G

FCGBP

iHART2701

chr19:
40424533-40424533

G

A

exonic

De novo

nonsynonymous SNV

NM_003890

c.C1670T

p.S557L

10.53

-

Ruzzo2019 G

FCGBP

iHART3300

chr19:
40421406-40421406

G

A

exonic

Maternal

stopgain

NM_003890

c.C2515T

p.Q839X

25.1

-

Ruzzo2019 G

FCGBP

5917

chr19:
40382582-40382582

A

C

exonic

De novo

nonsynonymous SNV

NM_003890

c.T10304G

p.V3435G

15.41

-

Fu2022 E

FCGBP

09C80145

chr19:
40363870-40363870

C

T

exonic

De novo

synonymous SNV

NM_003890

c.G14772A

p.G4924G

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E

FCGBP

iHART3240

chr19:
40366331-40366331

G

A

exonic

Paternal

stopgain

NM_003890

c.C13903T

p.Q4635X

53.0

-

Ruzzo2019 G

FCGBP

14168.p1

chr19:
40376361-40376361

G

C

exonic

De novo

nonsynonymous SNV

NM_003890

c.C11943G

p.C3981W

12.25

-

Ji2016 E
Krumm2015 E

FCGBP

AU4197302

chr19:
40368198-40368198

G

A

intronic

De novo

-

-

Yuen2017 G

FCGBP

SP0099396

chr19:
40430630-40430630

G

A

exonic

De novo

nonsynonymous SNV

NM_003890

c.C1313T

p.S438F

14.98

-

Fu2022 E

FCGBP

1545001

chr19:
40392452-40392452

G

A

exonic

De novo

synonymous SNV

NM_003890

c.C8052T

p.P2684P

-

-

Fu2022 E

FCGBP

SP0055942

chr19:
40363208-40363208

C

T

exonic

De novo

synonymous SNV

NM_003890

c.G14862A

p.L4954L

-

-

Fu2022 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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