Variant Results

or

Results for "PHACTR2"

Variant Events: 34

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

PHACTR2

A19

chr6:
144025261-144025261

G

GT

intronic

De novo

-

Wu2018 G

PHACTR2

AU076704

chr6:
144090587-144090587

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PHACTR2

AU4433301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PHACTR2

ASC_CA_74_A

chr6:
144076417-144076417

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PHACTR2

1-0006-004

chr6:
143908644-143908644

C

T

intergenic

De novo

-

Yuen2017 G

PHACTR2

MSSNG00346-003

chr6:
144005249-144005249

T

C

intronic

De novo

-

Trost2022 G

PHACTR2

4-0075-003

chr6:
144013842-144013843

TT

AA

intronic

De novo

-

Trost2022 G

PHACTR2

1-0672-003

chr6:
143976777-143976777

C

T

intronic

De novo

-

Trost2022 G

PHACTR2

3-0543-000

chr6:
143997390-143997390

G

C

intronic

De novo

-

Trost2022 G

PHACTR2

REACH000605

chr6:
143928977-143928977

T

C

upstream

De novo

-

Trost2022 G

PHACTR2

MT_70.3

chr6:
143976144-143976144

A

T

intronic

De novo

-

Trost2022 G

PHACTR2

MT_179.3

chr6:
144124959-144124959

C

T

intronic

De novo

-

Trost2022 G

PHACTR2

2-1093-003

chr6:
144135709-144135709

G

GC

intronic

De novo

-

Trost2022 G

PHACTR2

SP0011016

chr6:
144109928-144109928

G

GT

exonic

De novo

frameshift insertion

NM_001100165
NM_001100166
NM_001100164
NM_014721

c.1487dupT
c.1454dupT
c.1727dupT
c.1694dupT

p.V496fs
p.V485fs
p.V576fs
p.V565fs

-

Trost2022 G

PHACTR2

1-0611-005

chr6:
144117073-144117073

G

A

intronic

De novo

-

Trost2022 G

PHACTR2

REACH000202

chr6:
144046579-144046579

C

A

intronic

De novo

-

Trost2022 G

PHACTR2

7-0397-003

chr6:
144060780-144060780

T

C

intronic

De novo

-

Trost2022 G

PHACTR2

MSSNG00133-003

chr6:
144043295-144043296

TG

T

intronic

De novo

-

Trost2022 G

PHACTR2

1-1123-003

chr6:
144045561-144045561

G

A

intronic

De novo

-

Trost2022 G

PHACTR2

2-1142-003

chr6:
143942082-143942082

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PHACTR2

SP0245506

chr6:
144144819-144144819

G

A

exonic

De novo

nonsynonymous SNV

NM_001100165
NM_001100166
NM_001100164
NM_014721

c.G1691A
c.G1658A
c.G1931A
c.G1898A

p.R564H
p.R553H
p.R644H
p.R633H

17.25

4.141E-5

Trost2022 G

PHACTR2

11336.p1

chr6:
144033170-144033173

GCTT

G

exonic

De novo

nonframeshift deletion

NM_001100164
NM_001100165
NM_001100166
NM_014721

c.65_67del
c.65_67del
c.32_34del
c.32_34del

p.22_23del
p.22_23del
p.11_12del
p.11_12del

-

Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PHACTR2

2-0323-004

chr6:
143902408-143902408

A

G

intergenic

De novo

-

Yuen2017 G

PHACTR2

2-1186-003

chr6:
143964968-143964968

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PHACTR2

5-0065-003

chr6:
143901645-143901645

C

CA

intergenic

De novo

-

Yuen2017 G

PHACTR2

Wang2023:435

chr6:
144074941-144074941

A

G

exonic

De novo

nonsynonymous SNV

NM_001100164
NM_001100165
NM_001100166
NM_014721

c.A346G
c.A346G
c.A313G
c.A313G

p.I116V
p.I116V
p.I105V
p.I105V

18.48

-

Wang2023 E

PHACTR2

A7

chr6:
143983529-143983529

C

CC

intronic

De novo

-

Wu2018 G

PHACTR2

2-1502-003

chr6:
143926487-143926487

A

C

intergenic

De novo

-

Yuen2017 G

PHACTR2

AU3368302

chr6:
144145968-144145968

A

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

PHACTR2

11336_p1

chr6:
144033170-144033173

GCTT

G

exonic

De novo

nonframeshift deletion

NM_001100164
NM_001100165
NM_001100166
NM_014721

c.65_67del
c.65_67del
c.32_34del
c.32_34del

p.22_23del
p.22_23del
p.11_12del
p.11_12del

-

Fu2022 E

PHACTR2

2-1466-003

chr6:
144081182-144081182

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PHACTR2

1-0330-004

chr6:
143921869-143921884

ATTGTTTTGTTTAGTT

A

intergenic

De novo

-

Yuen2017 G

PHACTR2

2-1477-003

chr6:
144072418-144072418

C

T

intronic

De novo

-

Yuen2017 G

PHACTR2

AU4219302

Complex Event; expand row to view variants

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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