Variant Results

or

Results for "PHF2"

Variant Events: 28

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

PHF2

SP0074498

chr9:
96438792-96438792

T

C

intronic

De novo

-

Fu2022 E

PHF2

SP0072330

chr9:
96415505-96415505

C

T

exonic

De novo

nonsynonymous SNV

NM_005392

c.C647T

p.S216L

25.3

-

Fu2022 E

PHF2

AU1933302

chr9:
96493301-96493301

A

T

intergenic

De novo

-

Yuen2017 G

PHF2

5-0095-003

chr9:
96450150-96450152

CAT

C

intergenic

De novo

-

Yuen2017 G

PHF2

M20280

chr9:
96416765-96416765

C

T

exonic

Maternal

nonsynonymous SNV

NM_005392

c.C860T

p.A287V

33.0

-

Wang2016 T

PHF2

2-1605-003

chr9:
96415745-96415745

G

A

intronic

De novo

-

Yuen2017 G

PHF2

Ishay2021:25

chr9:
96439216-96439216

C

T

exonic

Inherited

nonsynonymous SNV

NM_005392

c.C3173T

p.S1058L

12.29

0.0015

Ishay2021 E

PHF2

SSC06404

chr9:
96439929-96439930

AT

A

exonic

De novo

frameshift deletion

NM_005392

c.3263delT

p.I1088fs

-

Antaki2022 GE
Fu2022 E

PHF2

Ishay2021:24

chr9:
96422528-96422528

G

A

exonic

Inherited

nonsynonymous SNV

NM_005392

c.G1384A

p.V462M

7.236

0.0011

Ishay2021 E

PHF2

1-0354-006

chr9:
96451063-96451063

A

C

intergenic

De novo

-

Yuen2017 G

PHF2

AU2437302

chr9:
96563630-96563630

G

A

intergenic

De novo

-

Yuen2017 G

PHF2

AU3124302

chr9:
96571328-96571328

C

T

intergenic

De novo

-

Yuen2017 G

PHF2

M03993

chr9:
96439868-96439868

A

G

splicing

Unknown

splicing

18.16

-

Guo2018 T
Wang2016 T

PHF2

G01-GEA-50-HI

chr9:
96420400-96420400

C

G

intronic

De novo

-

Satterstrom2020 E

PHF2

AU4089302

chr9:
96577780-96577780

C

T

intergenic

De novo

-

Yuen2017 G

PHF2

A30

chr9:
96468225-96468225

C

T

intergenic

De novo

-

Wu2018 G

PHF2

AU1933301

chr9:
96493301-96493301

A

T

intergenic

De novo

-

Yuen2017 G

PHF2

1-0263-003

chr9:
96469412-96469412

C

T

intergenic

De novo

-

Yuen2016 G

PHF2

12323.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_005392
NM_005392

c.3263delT
c.3264delT

p.I1088fs
p.I1088fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

PHF2

2-1380-003

chr9:
96362886-96362886

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PHF2

AU2381302

chr9:
96346663-96346663

C

G

intronic

De novo

-

Yuen2017 G

PHF2

AU2109301

chr9:
96452380-96452380

A

G

intergenic

De novo

-

Yuen2017 G

PHF2

SSC09846

chr9:
96437988-96437988

C

T

exonic

De novo

stopgain

NM_005392

c.C2749T

p.Q917X

36.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

PHF2

1-0300-003

chr9:
96358462-96358462

C

G

intronic

De novo

-

Yuen2017 G

PHF2

M12492

chr9:
96416765-96416765

C

T

exonic

Unknown

nonsynonymous SNV

NM_005392

c.C860T

p.A287V

33.0

-

Wang2016 T

PHF2

13903.p1

chr9:
96437988-96437988

C

T

exonic

De novo

stopgain

NM_005392

c.C2749T

p.Q917X

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PHF2

AU3777301

chr9:
96443971-96443971

G

A

intergenic

De novo

-

Yuen2017 G

PHF2

AU031003

chr9:
96485276-96485276

G

C

intergenic

De novo

-

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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