Variant Results

or

or

Results for "PHF14"

Variant Events: 29

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

PHF14

2-1475-003

chr7:
11081124-11081124

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

AU4234302

chr7:
11267048-11267048

G

A

intergenic

De novo

-

-

Yuen2017 G

PHF14

SP0009277

chr7:
11091314-11091314

A

G

exonic

De novo

synonymous SNV

NM_014660

c.A2388G

p.G796G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PHF14

3-0646-000

chr7:
11169467-11169467

A

G

intergenic

De novo

-

-

Trost2022 G

PHF14

SP0053576

chr7:
11022405-11022405

A

G

exonic

De novo

synonymous SNV

NM_014660

c.A519G

p.T173T

-

-

Fu2022 E
Zhou2022 GE

PHF14

3-0530-000

chr7:
11191056-11191056

C

A

intergenic

De novo

-

-

Trost2022 G

PHF14

1-0319-004

chr7:
11148144-11148144

C

T

downstream

De novo

-

-

Trost2022 G

PHF14

AU058104

chr7:
11160492-11160492

T

C

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

2-0214-004

chr7:
11149041-11149045

TATTT

AAAAAAAAAAAA

intergenic

De novo

-

-

Trost2022 G

PHF14

1-0760-003

chr7:
11133795-11133795

G

A

intronic

De novo

-

-

Trost2022 G

PHF14

1-0760-003

chr7:
11143502-11143502

T

C

UTR3

De novo

-

-

Trost2022 G

PHF14

2-1519-006

chr7:
11077357-11077360

TGAC

T

intronic

De novo

-

-

Trost2022 G

PHF14

5-1009-003

chr7:
11093091-11093091

G

A

intronic

De novo

-

-

Trost2022 G

PHF14

1-0674-004

chr7:
11052946-11052946

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

AU058105

chr7:
11027603-11027603

A

G

intronic

De novo

-

-

Yuen2017 G

PHF14

1-0377-003

chr7:
11201688-11201688

T

TA

intergenic

De novo

-

-

Yuen2017 G

PHF14

PN400203

chr7:
11078433-11078433

G

A

exonic

De novo

nonsynonymous SNV

NM_014660

c.G2027A

p.R676Q

17.5

Leblond2019 E

PHF14

AU3125301

chr7:
11132402-11132402

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

AU060703

chr7:
11179174-11179174

G

T

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

AU012803

chr7:
11081364-11081364

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

SP0001365

chr7:
11030426-11030426

G

A

exonic

De novo

nonsynonymous SNV

NM_014660

c.G997A

p.A333T

13.29

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

PHF14

2-1210-003

chr7:
11077640-11077640

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

1-0553-003

chr7:
11244018-11244018

C

T

intergenic

De novo

-

-

Yuen2017 G

PHF14

2-1730-003

chr7:
11013604-11013604

A

G

UTR5

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

2-0135-004

chr7:
11079951-11079951

G

A

intronic

De novo

-

-

Yuen2017 G

PHF14

AU050604

chr7:
11167346-11167346

T

C

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

F10290-1

chr7:
11022655-11022655

G

A

exonic

De novo

nonsynonymous SNV

NM_014660

c.G769A

p.E257K

14.87

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PHF14

AU4233301

chr7:
11205229-11205229

T

C

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

PHF14

AU4176302

chr7:
11279998-11279998

G

T

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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