Variant Results

or

Results for "PTBP2"

Variant Events: 24

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

PTBP2

2-1567-003

chr1:
97217557-97217557

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTBP2

1-0969-003

chr1:
97339730-97339730

A

G

intergenic

De novo

-

Yuen2017 G

PTBP2

10C112515

chr1:
97189108-97189108

T

TTA

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PTBP2

1-0252-003

chr1:
97257392-97257392

T

TTTTTTTG

intronic

De novo

-

Yuen2017 G

PTBP2

2-1567-004

chr1:
97217557-97217557

C

T

intronic

De novo

-

Trost2022 G

PTBP2

MSSNG00203-003

chr1:
97198605-97198605

T

C

intronic

De novo

-

Trost2022 G

PTBP2

5-0095-003

chr1:
97197665-97197665

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTBP2

7-0192-003

chr1:
97359142-97359142

T

C

intergenic

De novo

-

Yuen2017 G

PTBP2

1-0025-006

chr1:
97257144-97257156

AGGGGTTTTGAAG

T

intronic

De novo

-

Trost2022 G

PTBP2

5-0095-003

chr1:
97288601-97288601

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PTBP2

P6Q4Z_01

chr1:
97220265-97220265

A

T

intronic

De novo

-

Trost2022 G

PTBP2

SP0038418

chr1:
97243567-97243571

ATATG

A

intronic

De novo

-

Fu2022 E

PTBP2

2-1644-003

chr1:
97193232-97193233

TC

GT

intronic

De novo

-

Trost2022 G

PTBP2

NDAR_INVXU466BJV_wes1

chr1:
97272493-97272493

G

A

exonic

De novo

nonsynonymous SNV

NM_001300990
NM_001300985
NM_001300986
NM_001300988
NM_001300989
NM_021190
NM_001300987

c.G994A
c.G1165A
c.G1174A
c.G1165A
c.G1150A
c.G1150A
c.G1198A

p.D332N
p.D389N
p.D392N
p.D389N
p.D384N
p.D384N
p.D400N

19.84

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTBP2

1-1174-003

chr1:
97271531-97271531

T

C

intronic

De novo

-

Trost2022 G

PTBP2

1-0025-004

chr1:
97257144-97257156

AGGGGTTTTGAAG

T

intronic

De novo

-

Trost2022 G

PTBP2

MSSNG00400-003

chr1:
97283398-97283398

G

T

intergenic

De novo

-

Trost2022 G

PTBP2

7-0167-003

chr1:
97531946-97531946

G

A

intergenic

De novo

-

Yuen2017 G

PTBP2

AU4379301

chr1:
97294715-97294715

G

C

intergenic

De novo

-

Yuen2017 G

PTBP2

1-0320-004

chr1:
97386706-97386706

T

C

intergenic

De novo

-

Yuen2017 G

PTBP2

2-1094-004

chr1:
97447151-97447151

A

C

intergenic

De novo

-

Yuen2017 G

PTBP2

AU076808

chr1:
97322374-97322382

GTCTCCCAT

GT

intergenic

De novo

-

Yuen2017 G

PTBP2

2-1089-003

chr1:
97527737-97527737

T

TTG

intergenic

De novo

-

Yuen2017 G

PTBP2

14621.p1

chr1:
97189108-97189108

T

TTA

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 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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