Variant Results

or

or

Results for "PIK3C2B"

Variant Events: 14

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

PIK3C2B

09C86986

chr1:
204412621-204412621

T

G

exonic

De novo

nonsynonymous SNV

NM_002646

c.A2972C

p.N991T

12.77

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIK3C2B

1-0207-005

chr1:
204459026-204459026

C

A

UTR5

De novo

-

-

Trost2022 G

PIK3C2B

REACH000327

chr1:
204446577-204446577

G

A

intronic

De novo

-

-

Trost2022 G

PIK3C2B

AU4250301

chr1:
204394953-204394953

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2B

1-0494-003

chr1:
204482933-204482933

G

T

intergenic

De novo

-

-

Yuen2017 G

PIK3C2B

1-0494-003A

chr1:
204482933-204482933

G

T

intergenic

De novo

-

-

Yuen2017 G

PIK3C2B

111290

chr1:
204423884-204423884

T

C

exonic

nonsynonymous SNV

NM_002646

c.A1979G

p.H660R

20.3

-

Woodbury-Smith2022 E

PIK3C2B

AU002406

chr1:
204467752-204467752

G

T

intergenic

De novo

-

-

Yuen2017 G

PIK3C2B

AU2029302

chr1:
204482108-204482108

C

T

intergenic

De novo

-

-

Yuen2017 G

PIK3C2B

SP0086858

chr1:
204416555-204416555

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PIK3C2B

AU2029303

chr1:
204482108-204482108

C

T

intergenic

De novo

-

-

Yuen2017 G

PIK3C2B

AU2951303

chr1:
204394235-204394235

G

A

intronic

De novo

-

-

Yuen2017 G

PIK3C2B

AU2951302

chr1:
204394235-204394235

G

A

intronic

De novo

-

-

Yuen2017 G

PIK3C2B

SP0092124

chr1:
204424961-204424961

C

T

intronic

De novo

-

Fu2022 E
Trost2022 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
	More