Variant Results

or

or

Results for "GSPT1"

Variant Events: 23

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

GSPT1

Marques2022:78

chr16:
11970019-11970019

T

C

exonic

nonsynonymous SNV

NM_001130006
NM_001130007
NM_002094

c.A1613G
c.A1202G
c.A1616G

p.E538G
p.E401G
p.E539G

23.8

-

Marques2022 ET

GSPT1

1-0632-003

chr16:
12048384-12048384

G

A

intergenic

De novo

-

-

Yuen2017 G

GSPT1

Marques2022:77

chr16:
11969662-11969662

A

G

exonic

nonsynonymous SNV

NM_001130006
NM_001130007
NM_002094

c.T1814C
c.T1403C
c.T1817C

p.F605S
p.F468S
p.F606S

22.7

-

Marques2022 ET

GSPT1

Marques2022:80

chr16:
11980731-11980731

T

C

exonic

nonsynonymous SNV

NM_001130006
NM_001130007
NM_002094

c.A1012G
c.A601G
c.A1015G

p.R338G
p.R201G
p.R339G

19.63

-

Marques2022 ET

GSPT1

Marques2022:79

chr16:
11976936-11976936

A

T

exonic

nonsynonymous SNV

NM_001130006
NM_001130007
NM_002094

c.T1361A
c.T950A
c.T1364A

p.V454D
p.V317D
p.V455D

25.1

-

Marques2022 ET

GSPT1

7-0078-003

chr16:
12019516-12019516

G

T

intergenic

De novo

-

-

Yuen2017 G

GSPT1

AU009805

chr16:
12039026-12039026

A

G

intergenic

De novo

-

-

Yuen2017 G

GSPT1

12680.p1

chr16:
11977582-11977582

C

T

intronic

De novo

-

-

Turner2016 G

GSPT1

607966716413-C2

chr16:
12035923-12035923

C

T

intergenic

De novo

-

-

Fu2022 E

GSPT1

12680.p1

chr16:
11977587-11977587

T

C

intronic

De novo

-

-

Turner2016 G

GSPT1

12680.p1

chr16:
11977567-11977567

C

T

intronic

De novo

-

-

Turner2016 G

GSPT1

12680.p1

chr16:
11977571-11977571

C

A

intronic

De novo

-

-

Turner2016 G

GSPT1

2-1146-003

chr16:
11994856-11994883

GAAAAACAAAAAACAAAAAACAAAAAAC

GAAAAACAAAAAACAAAAAAC

intronic

De novo

-

-

Yuen2017 G

GSPT1

1-0565-004

chr16:
12002578-12002578

C

G

intronic

De novo

-

-

Yuen2017 G

GSPT1

AU3912303

chr16:
11974804-11974804

G

A

intronic

De novo

-

-

Yuen2017 G

GSPT1

12680.p1

chr16:
11977591-11977591

G

A

intronic

De novo

-

-

Turner2016 G

GSPT1

12680.p1

chr16:
11977598-11977598

C

T

intronic

De novo

-

-

Turner2016 G

GSPT1

13259.p1

chr16:
11991784-11991784

T

A

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

GSPT1

1-0009-004

chr16:
11997197-11997197

G

A

intronic

De novo

-

-

Yuen2017 G

GSPT1

2-1169-003

chr16:
12009007-12009007

G

GGCGCGCT

intronic

De novo

-

-

Yuen2017 G

GSPT1

SP0036521

chr16:
11980445-11980445

A

T

exonic

De novo

nonsynonymous SNV

NM_001130006
NM_001130007
NM_002094

c.T1133A
c.T722A
c.T1136A

p.L378Q
p.L241Q
p.L379Q

20.8

-

Antaki2022 GE
Fu2022 E

GSPT1

AU3903302

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

GSPT1

MR_1483

chr16:
12021335-12021335

T

G

intergenic

De novo

-

-

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
	More