Variant Results

or

or

Results for "GCN1"

Variant Events: 18

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

GCN1

AU4365302

chr12:
120606492-120606492

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GCN1

SAGA-70

Complex Event; expand row to view variants

splicing

12.89

-

Doan2019 E
Doan2019 E

GCN1

SP0016413

chr12:
120565734-120565734

G

A

exonic

synonymous SNV

NM_006836

c.C7935T

p.N2645N

-

-

Zhou2022 GE

GCN1

MSSNG00043-003

chr12:
120565670-120565670

C

T

exonic

De novo

nonsynonymous SNV

NM_006836

c.G7999A

p.D2667N

24.7

-

Trost2022 G
Zhou2022 GE

GCN1

11089.p1

chr12:
120618202-120618202

A

G

intronic

De novo

-

-

Turner2016 G

GCN1

P1194

chr12:
120591701-120591701

C

T

exonic

De novo

synonymous SNV

NM_006836

c.G3714A

p.A1238A

-

Hashimoto2016 E

GCN1

11089.p1

chr12:
120618209-120618209

A

G

intronic

De novo

-

-

Turner2016 G

GCN1

5-0053-003

chr12:
120622688-120622688

G

T

exonic

De novo

nonsynonymous SNV

NM_006836

c.C124A

p.L42I

13.93

-

Trost2022 G
Zhou2022 GE

GCN1

REACH000678

chr12:
120610615-120610615

G

C

intronic

De novo

-

-

Trost2022 G

GCN1

7-0469-003

chr12:
120628621-120628621

G

A

intronic

De novo

-

-

Trost2022 G

GCN1

SP0060927

chr12:
120585958-120585958

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

GCN1

SP0064355

chr12:
120613953-120613953

T

C

exonic

De novo

synonymous SNV

NM_006836

c.A906G

p.G302G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GCN1

SSC04826

chr12:
120575778-120575778

C

T

exonic

De novo

nonsynonymous SNV

NM_006836

c.G6320A

p.R2107H

21.7

Trost2022 G

GCN1

mAGRE2111

chr12:
120615337-120615337

G

A

exonic

Paternal

stopgain

NM_006836

c.C751T

p.R251X

37.0

-

Cirnigliaro2023 G

GCN1

12467.p1

chr12:
120575778-120575778

C

T

exonic

De novo

nonsynonymous SNV

NM_006836

c.G6320A

p.R2107H

21.7

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

GCN1

AU3636302

chr12:
120625499-120625499

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GCN1

G01-GEA-105-HI

chr12:
120612957-120612957

T

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GCN1

iHART2111

chr12:
120615337-120615337

G

A

exonic

Paternal

stopgain

NM_006836

c.C751T

p.R251X

37.0

-

Ruzzo2019 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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