Variant Results

or

Results for "PI4KA"

Variant Events: 40

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

PI4KA

AU3638302

chr22:
21108297-21108297

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PI4KA

1-0338-005

chr22:
21185262-21185262

T

C

intronic

De novo

-

Yuen2017 G

PI4KA

Wang2023:291

chr22:
21119516-21119516

G

A

exonic

De novo

nonsynonymous SNV

NM_058004

c.C2446T

p.P816S

25.4

-

Wang2023 E

PI4KA

mAGRE5946

chr22:
21174096-21174096

G

GC

exonic

Maternal

frameshift insertion

NM_058004

c.621dupG

p.L208fs

-

Cirnigliaro2023 G

PI4KA

2-1437-003

chr22:
21081520-21081520

G

C

exonic

De novo

nonsynonymous SNV

NM_058004

c.C4939G

p.P1647A

15.74

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PI4KA

2-1280-003

chr22:
21147034-21147034

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PI4KA

SP0039864

chr22:
21064078-21064078

G

A

intronic

De novo

-

Fu2022 E

PI4KA

4-0098-003

chr22:
21119897-21119897

T

A

exonic

De novo

nonsynonymous SNV

NM_058004

c.A2413T

p.M805L

28.3

-

Trost2022 G
Zhou2022 GE

PI4KA

2-1502-003

chr22:
21189935-21189935

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PI4KA

SP0092196

chr22:
21105609-21105609

G

A

exonic

nonsynonymous SNV

NM_058004

c.C3125T

p.T1042M

34.0

2.0E-4

Zhou2022 GE

PI4KA

3-0749-000A

chr22:
21073055-21073055

G

A

exonic

De novo

synonymous SNV

NM_058004

c.C5172T

p.S1724S

-

1.674E-5

Trost2022 G
Zhou2022 GE

PI4KA

SP0179349

chr22:
21084254-21084254

C

T

exonic

De novo

nonsynonymous SNV

NM_058004

c.G4334A

p.R1445Q

23.9

-

Trost2022 G

PI4KA

SP0240217

chr22:
21081642-21081642

A

C

exonic

De novo

nonsynonymous SNV

NM_058004

c.T4817G

p.L1606R

26.6

-

Trost2022 G

PI4KA

SP0046707

chr22:
21088337-21088337

C

T

exonic

De novo

nonsynonymous SNV

NM_058004

c.G4046A

p.R1349H

35.0

5.186E-5

Fu2022 E
Zhou2022 GE

PI4KA

7-0119-003

chr22:
21185804-21185804

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PI4KA

1-0512-003

chr22:
21185147-21185147

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PI4KA

3-0607-000

chr22:
21146445-21146445

G

A

intronic

De novo

-

Trost2022 G

PI4KA

4-0073-003

chr22:
21140499-21140500

CC

GA

intronic

De novo

-

Trost2022 G

PI4KA

7-0024-005

chr22:
21188913-21188913

G

T

exonic

De novo

synonymous SNV

NM_058004

c.C304A

p.R102R

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PI4KA

3-0530-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Trost2022 G
Trost2022 G

PI4KA

1-0722-003

chr22:
21124508-21124508

T

G

intronic

De novo

-

Trost2022 G

PI4KA

SP0069855

chr22:
21097069-21097069

A

C

intronic

De novo

-

Fu2022 E

PI4KA

1-0319-003

chr22:
21119346-21119346

T

C

intronic

De novo

-

3.415E-5

Trost2022 G

PI4KA

SP0057144

chr22:
21173988-21173988

T

A

exonic

De novo

nonsynonymous SNV

NM_058004

c.A730T

p.T244S

13.33

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PI4KA

1-1051-003

chr22:
21110973-21110973

C

T

intronic

De novo

-

Trost2022 G

PI4KA

SP0026428

chr22:
21119099-21119099

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PI4KA

2-1093-005

chr22:
21110637-21110648

TAGGTGGGATTA

C

intronic

De novo

-

Trost2022 G

PI4KA

SP0042459

chr22:
21107348-21107348

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

PI4KA

1-0628-004A

chr22:
21087961-21087961

G

A

intronic

De novo

-

Trost2022 G

PI4KA

SP0012220

chr22:
21213080-21213080

G

A

UTR5

De novo

-

Trost2022 G
Trost2022 G

PI4KA

AU2310301

chr22:
21202642-21202642

T

C

intronic

De novo

-

Trost2022 G

PI4KA

2-0160-003

chr22:
21185016-21185016

T

C

intronic

De novo

-

Trost2022 G

PI4KA

1-0433-004

chr22:
21175651-21175656

TGCATG

CATGCA

intronic

De novo

-

Trost2022 G

PI4KA

1-0433-004

chr22:
21175646-21175646

A

G

intronic

De novo

-

Trost2022 G

PI4KA

1-0433-004

chr22:
21175640-21175641

AA

GG

intronic

De novo

-

Trost2022 G

PI4KA

mAGRE1653

chr22:
21158689-21158689

C

G

splicing

Paternal

splicing

15.8

-

Cirnigliaro2023 G

PI4KA

mAGRE1652

chr22:
21158689-21158689

C

G

splicing

Paternal

splicing

15.8

-

Cirnigliaro2023 G

PI4KA

iHART1652

chr22:
21158689-21158689

C

G

splicing

Paternal

splicing

15.8

-

Ruzzo2019 G

PI4KA

AU103A

chr22:
21167781-21167781

G

A

exonic

De novo

synonymous SNV

NM_058004

c.C870T

p.P290P

-

9.0E-4

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

PI4KA

iHART1653

chr22:
21158689-21158689

C

G

splicing

Paternal

splicing

15.8

-

Ruzzo2019 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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