Variant Results

or

Results for "PHF7"

Variant Events: 13

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

PHF7

ACGC_HN0231.p1

chr3:
52448524-52448534

GCCTTCGAGAA

G

exonic

Unknown

frameshift deletion

NM_001278221
NM_016483

c.108_117del
c.108_117del

p.C36fs
p.C36fs

-

Wang2020 T

PHF7

Iowa_242_3_a.2.1

chr3:
52457125-52457127

CAG

C

exonic

Unknown

frameshift deletion

NM_001278221
NM_016483

c.822_823del
c.939_940del

p.S274fs
p.S313fs

-

Wang2020 T

PHF7

mAGRE2017

chr3:
52448529-52448529

C

T

exonic

Maternal

stopgain

NM_001278221
NM_016483

c.C112T
c.C112T

p.R38X
p.R38X

36.0

1.648E-5

Cirnigliaro2023 G

PHF7

Leuven2_63465272

chr3:
52453937-52453937

G

A

exonic

Unknown

nonsynonymous SNV

NM_001278221
NM_016483

c.G275A
c.G275A

p.R92Q
p.R92Q

20.3

1.243E-5

Wang2020 T

PHF7

2-1287-003

chr3:
52456010-52456010

G

C

intronic

De novo

-

Trost2022 G

PHF7

AU050703

chr3:
52457103-52457106

CCAG

CCAC

splicing

Inherited

splicing

16.91

-

Stessman2017 T

PHF7

ACGC_SD0326.p1

chr3:
52457318-52457318

C

CA

exonic

Unknown

frameshift insertion

NM_001278221
NM_016483

c.1015dupA
c.1132dupA

p.C338fs
p.C377fs

-

Wang2020 T

PHF7

Leuven2_60433376

chr3:
52445223-52445223

G

A

UTR5

Unknown

-

Wang2020 T

PHF7

ACGC_M12422

chr3:
52445044-52445044

G

A

UTR5

Maternal

-

Wang2020 T

PHF7

AGRE_AU050703

chr3:
52457106-52457106

G

C

splicing

Unknown

splicing

16.91

-

Wang2020 T
Wang2020 T

PHF7

M12422

chr3:
52445044-52445044

G

A

UTR5

Maternal

-

Wang2016 T

PHF7

SSC04464

chr3:
52454424-52454425

GC

G

exonic

De novo

frameshift deletion

NM_001278221
NM_016483

c.387delC
c.387delC

p.C129fs
p.C129fs

-

Fu2022 E
Trost2022 G

PHF7

12383.p1

chr3:
52454424-52454425

GC

G

exonic

Unknown, De novo

frameshift deletion

NM_001278221
NM_016483

c.387delC
c.387delC

p.C129fs
p.C129fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

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