Variant Results

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Results for "PI4KA"

Variant Events: 17

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

-

-

Yuen2017 G

PI4KA

1-0338-005

chr22:
21185262-21185262

T

C

intronic

De novo

-

-

Yuen2017 G

PI4KA

SP0046707

chr22:
21088337-21088337

C

T

exonic

De novo

nonsynonymous SNV

NM_058004

c.G4046A

p.R1349H

35.0

Fu2022 E

PI4KA

7-0119-003

chr22:
21185804-21185804

C

T

intronic

De novo

-

-

Yuen2017 G

PI4KA

2-1437-003

chr22:
21081520-21081520

G

C

exonic

De novo

nonsynonymous SNV

NM_058004

c.C4939G

p.P1647A

15.74

-

Yuen2015 G
Yuen2017 G

PI4KA

1-0512-003

chr22:
21185147-21185147

C

T

intronic

De novo

-

-

Yuen2017 G

PI4KA

2-1280-003

chr22:
21147034-21147034

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PI4KA

7-0024-005

chr22:
21188913-21188913

G

T

exonic

De novo

synonymous SNV

NM_058004

c.C304A

p.R102R

-

-

Yuen2017 G

PI4KA

SP0069855

chr22:
21097069-21097069

A

C

intronic

De novo

-

-

Fu2022 E

PI4KA

SP0057144

chr22:
21173988-21173988

T

A

exonic

De novo

nonsynonymous SNV

NM_058004

c.A730T

p.T244S

13.33

-

Fu2022 E

PI4KA

SP0026428

chr22:
21119099-21119099

G

C

intronic

De novo

-

-

Fu2022 E

PI4KA

SP0042459

chr22:
21107348-21107348

C

G

intronic

De novo

-

-

Fu2022 E

PI4KA

SP0039864

chr22:
21064078-21064078

G

A

intronic

De novo

-

-

Fu2022 E

PI4KA

2-1502-003

chr22:
21189935-21189935

G

A

intronic

De novo

-

-

Yuen2017 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

-

DeRubeis2014 E
Kosmicki2017 E

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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