Variant Results

or

or

Results for "PTK2B"

Variant Events: 19

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

PTK2B

10C110253

chr8:
27308294-27308294

G

A

exonic

De novo

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.G2243A
c.G2369A
c.G2369A
c.G2369A

p.R748Q
p.R790Q
p.R790Q
p.R790Q

17.62

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PTK2B

SP0055798

chr8:
27277476-27277476

A

G

exonic

De novo

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.A269G
c.A269G
c.A269G
c.A269G

p.Y90C
p.Y90C
p.Y90C
p.Y90C

20.2

-

Fu2022 E

PTK2B

SP0044551

chr8:
27297897-27297897

C

T

exonic

De novo

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.C1978T
c.C1978T
c.C1978T
c.C1978T

p.R660C
p.R660C
p.R660C
p.R660C

21.6

-

Fu2022 E

PTK2B

1-0153-005

chr8:
27303913-27303913

A

G

intronic

De novo

-

-

Yuen2017 G

PTK2B

SP0018338

chr8:
27311699-27311699

G

A

exonic

De novo

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.G2498A
c.G2624A
c.G2624A
c.G2624A

p.R833Q
p.R875Q
p.R875Q
p.R875Q

36.0

Fu2022 E

PTK2B

1-0406-003

chr8:
27271128-27271128

G

A

intronic

De novo

-

-

Yuen2017 G

PTK2B

1-0560-003

chr8:
27222409-27222409

A

G

intronic

De novo

-

-

Yuen2017 G

PTK2B

AU2495302

chr8:
27291680-27291680

C

T

intronic

De novo

-

-

Yuen2017 G

PTK2B

AU3716302

chr8:
27182489-27182490

TG

T

intronic

De novo

-

-

Yuen2017 G

PTK2B

AU061003

chr8:
27190215-27190215

C

T

intronic

De novo

-

-

Yuen2017 G

PTK2B

SP0105324

chr8:
27296704-27296704

A

G

intronic

De novo

-

-

Fu2022 E

PTK2B

AU4122301

chr8:
27200260-27200260

C

A

intronic

De novo

-

-

Yuen2017 G

PTK2B

AU047904

chr8:
27190605-27190605

G

A

intronic

De novo

-

-

Yuen2017 G

PTK2B

Shi2013:2

chr8:
27291015-27291015

T

C

exonic

Inherited

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.T1051C
c.T1051C
c.T1051C
c.T1051C

p.Y351H
p.Y351H
p.Y351H
p.Y351H

24.8

Shi2013 G

PTK2B

1-0336-003

chr8:
27283970-27283970

G

A

intronic

De novo

-

-

Yuen2017 G

PTK2B

2-1086-003

chr8:
27185073-27185073

C

T

intronic

De novo

-

-

Yuen2017 G

PTK2B

2-0202-004

chr8:
27245100-27245100

G

A

intronic

De novo

-

-

Yuen2017 G

PTK2B

2-1438-003

chr8:
27314971-27314971

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PTK2B

Shi2013:1

chr8:
27291015-27291015

T

C

exonic

Inherited

nonsynonymous SNV

NM_173175
NM_173176
NM_004103
NM_173174

c.T1051C
c.T1051C
c.T1051C
c.T1051C

p.Y351H
p.Y351H
p.Y351H
p.Y351H

24.8

Shi2013 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
	More