Variant Results

or

Results for "PTPRF"

Variant Events: 43

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

PTPRF

PN400367

chr1:
44069636-44069636

C

T

exonic

Unknown

nonsynonymous SNV

NM_130440
NM_002840

c.C2786T
c.C2813T

p.P929L
p.P938L

25.6

9.0E-4

Leblond2019 E

PTPRF

AU2256301

chr1:
44072014-44072014

A

G

exonic

nonsynonymous SNV

NM_130440
NM_002840

c.A3560G
c.A3587G

p.E1187G
p.E1196G

7.673

-

Zhou2022 GE

PTPRF

14460.p1

chr1:
44019658-44019658

G

A

intronic

De novo

-

8.572E-6

Satterstrom2020 E

PTPRF

PN400209

chr1:
44069636-44069636

C

T

exonic

Unknown

nonsynonymous SNV

NM_130440
NM_002840

c.C2786T
c.C2813T

p.P929L
p.P938L

25.6

9.0E-4

Leblond2019 E

PTPRF

SP0142211

chr1:
44083221-44083221

A

G

exonic

De novo

nonsynonymous SNV

NM_130440
NM_002840

c.A4150G
c.A4177G

p.I1384V
p.I1393V

8.449

-

Trost2022 G
Zhou2022 GE

PTPRF

PN400434

chr1:
44069636-44069636

C

T

exonic

Unknown

nonsynonymous SNV

NM_130440
NM_002840

c.C2786T
c.C2813T

p.P929L
p.P938L

25.6

9.0E-4

Leblond2019 E

PTPRF

5-0015-003

chr1:
44082410-44082410

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

21733-34496

chr1:
44069557-44069557

G

A

exonic

Inherited

nonsynonymous SNV

NM_130440
NM_002840

c.G2707A
c.G2734A

p.E903K
p.E912K

27.3

-

Callaghan2019 G

PTPRF

SP0134683

chr1:
44071036-44071036

C

T

exonic

De novo

nonsynonymous SNV

NM_130440
NM_002840

c.C3284T
c.C3311T

p.P1095L
p.P1104L

28.5

8.272E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

PTPRF

37046

chr1:
44056693-44056693

A

C

exonic

De novo

nonsynonymous SNV

NM_002840
NM_130440

c.A1000C
c.A1000C

p.S334R
p.S334R

19.01

-

Fu2022 E
Trost2022 G

PTPRF

14381_p1

chr1:
44064524-44064524

G

A

exonic

De novo

synonymous SNV

NM_002840
NM_130440

c.G2253A
c.G2253A

p.L751L
p.L751L

10.56

-

Fu2022 E

PTPRF

1-0357-003

chr1:
44039812-44039812

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

80001100711

chr1:
44019507-44019507

C

T

exonic

De novo

nonsynonymous SNV

NM_002840
NM_130440

c.C274T
c.C274T

p.R92W
p.R92W

26.9

1.649E-5

Fu2022 E

PTPRF

SP0009312

chr1:
44064337-44064337

T

G

intronic

De novo

-

Fu2022 E

PTPRF

SP0042459

chr1:
44019340-44019340

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

PTPRF

36186

chr1:
44019658-44019658

G

A

intronic

De novo

-

8.572E-6

Trost2022 G

PTPRF

3-0368-000

chr1:
44006697-44006697

G

A

intronic

De novo

-

Trost2022 G

PTPRF

AU2035302

chr1:
44036226-44036226

C

T

intronic

De novo

-

Yuen2017 G

PTPRF

SSC03032

chr1:
44083205-44083205

C

T

exonic

De novo

synonymous SNV

NM_130440
NM_002840

c.C4134T
c.C4161T

p.Y1378Y
p.Y1387Y

9.445

2.0E-4

Fu2022 E
Trost2022 G

PTPRF

AU1933302

chr1:
44048088-44048091

TCAC

TC

intronic

De novo

-

Yuen2017 G

PTPRF

2-1338-003

chr1:
44071780-44071780

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

5-0119-003

chr1:
44045285-44045285

A

G

intronic

De novo

-

Trost2022 G

PTPRF

7-0198-003

chr1:
44041745-44041746

GG

AA

intronic

De novo

-

Trost2022 G

PTPRF

01C05703

chr1:
44075115-44075115

C

A

exonic

De novo

nonsynonymous SNV

NM_130440
NM_002840

c.C3892A
c.C3919A

p.L1298M
p.L1307M

16.02

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTPRF

3-0095-000

chr1:
44073096-44073096

C

G

intronic

De novo

-

Trost2022 G

PTPRF

3-0223-000

chr1:
44050854-44050854

T

C

intronic

De novo

-

Trost2022 G

PTPRF

5-0119-003

chr1:
44032841-44032841

C

T

intronic

De novo

-

Trost2022 G

PTPRF

08C72840

chr1:
44072014-44072014

A

G

exonic

De novo

nonsynonymous SNV

NM_130440
NM_002840

c.A3560G
c.A3587G

p.E1187G
p.E1196G

7.673

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTPRF

7-0412-003

chr1:
44022692-44022692

A

AACTTG

intronic

De novo

-

Trost2022 G

PTPRF

REACH000228

chr1:
44039253-44039253

C

T

intronic

De novo

-

Trost2022 G

PTPRF

2-1183-003

chr1:
44070296-44070296

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

5-0020-003

chr1:
44034746-44034746

G

A

intronic

De novo

-

Trost2022 G

PTPRF

AU2035301

chr1:
44036226-44036226

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

10C105731

chr1:
44078481-44078482

CA

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PTPRF

SP0028458

chr1:
44086114-44086114

T

C

intronic

De novo

-

Fu2022 E

PTPRF

3-0446-000

chr1:
44032495-44032495

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PTPRF

1-0201-004

chr1:
44090176-44090176

G

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

14626.p1

chr1:
44056693-44056693

A

C

exonic

De novo

nonsynonymous SNV

NM_002840
NM_130440

c.A1000C
c.A1000C

p.S334R
p.S334R

19.01

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PTPRF

14381.p1

chr1:
44064524-44064524

G

A

exonic

De novo

synonymous SNV

NM_002840
NM_130440

c.G2253A
c.G2253A

p.L751L
p.L751L

10.56

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTPRF

11671.p1

chr1:
44083205-44083205

C

T

exonic

De novo

synonymous SNV

NM_130440
NM_002840

c.C4134T
c.C4161T

p.Y1378Y
p.Y1387Y

9.445

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

PTPRF

1-0763-004

chr1:
44023966-44023966

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRF

Lim2017:37046

chr1:
44056693-44056693

A

C

exonic

De novo

nonsynonymous SNV

NM_002840
NM_130440

c.A1000C
c.A1000C

p.S334R
p.S334R

19.01

-

Lim2017 E

PTPRF

2-1348-003

chr1:
44082221-44082221

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 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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