Variant Results

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Results for "PHF3"

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

PHF3

13931.p1

chr6:
64423108-64423108

C

T

exonic

De novo

nonsynonymous SNV

NM_015153
NM_001290259

c.C5624T
c.C5360T

p.A1875V
p.A1787V

7.77

-

Krumm2015 E
Satterstrom2020 E
Wilfert2021 G

PHF3

AU034903

chr6:
64390197-64390197

G

C

intronic

De novo

-

-

Yuen2017 G

PHF3

217-14290-4110

chr6:
64422052-64422059

TAAAAGTT

T

exonic

Maternal

frameshift deletion

NM_015153
NM_001290259

c.4569_4575del
c.4305_4311del

p.I1523fs
p.I1435fs

-

-

Stessman2017 T

PHF3

1-0067-005

chr6:
64397278-64397278

T

C

intronic

De novo

-

-

Yuen2017 G

PHF3

AU2427301

chr6:
64413519-64413527

CACAGACAG

CACAG

exonic

De novo

frameshift deletion

NM_015153
NM_001290259

c.3330_3333del
c.3066_3069del

p.R1110fs
p.R1022fs

-

-

Yuen2017 G

PHF3

14133.p1

chr6:
64413433-64413435

CCG

C

exonic

De novo

frameshift deletion

NM_015153
NM_001290259

c.3240_3241del
c.2976_2977del

p.A1080fs
p.A992fs

-

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PHF3

SP0032591

chr6:
64394227-64394227

C

T

exonic

De novo

stopgain

NM_015153
NM_001290260
NM_001290259

c.C604T
c.C604T
c.C340T

p.R202X
p.R202X
p.R114X

10.64

-

Antaki2022 GE
Fu2022 E

PHF3

SP0096443

chr6:
64390104-64390104

A

G

intronic

De novo

-

-

Fu2022 E

PHF3

2-1736-003

chr6:
64345725-64345725

G

A

UTR5

De novo

-

-

Yuen2017 G

PHF3

iHART2916

chr6:
64413519-64413523

CACAG

C

exonic

De novo

frameshift deletion

NM_015153
NM_001290259

c.3326_3329del
c.3062_3065del

p.H1109fs
p.H1021fs

-

-

Ruzzo2019 G

PHF3

SSC10511

chr6:
64413433-64413435

CCG

C

exonic

frameshift deletion

NM_015153
NM_001290259

c.3240_3241del
c.2976_2977del

p.A1080fs
p.A992fs

-

-

Antaki2022 GE

PHF3

SP0006795

chr6:
64404513-64404513

G

T

exonic

De novo

stopgain

NM_015153
NM_001290259

c.G2539T
c.G2275T

p.E847X
p.E759X

38.0

-

Antaki2022 GE
Fu2022 E

PHF3

5-0131-003

chr6:
64387779-64387779

C

T

intronic

De novo

-

-

Yuen2017 G

PHF3

2-0109-003

chr6:
64400474-64400474

C

CT

intronic

De novo

-

-

Yuen2017 G

PHF3

AU3846302

chr6:
64366595-64366595

G

C

intronic

De novo

-

-

Yuen2017 G

PHF3

1-0629-003

chr6:
64357297-64357297

T

G

intronic

De novo

-

-

Yuen2017 G

PHF3

AU1995302

chr6:
64376667-64376667

T

C

intronic

De novo

-

-

Yuen2017 G

PHF3

80001105178

chr6:
64395640-64395640

C

T

exonic

De novo

nonsynonymous SNV

NM_015153
NM_001290260
NM_001290259

c.C2017T
c.C2017T
c.C1753T

p.R673C
p.R673C
p.R585C

15.01

-

Fu2022 E

PHF3

14110.p1

chr6:
64423242-64423242

C

T

exonic

De novo

nonsynonymous SNV

NM_015153
NM_001290259

c.C5758T
c.C5494T

p.R1920C
p.R1832C

11.85

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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