Variant Results

or

or

Results for "PIK3R5"

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

PIK3R5

AU2756306

chr17:
8837714-8837714

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3R5

2-1330-003

chr17:
8839263-8839263

C

T

intronic

De novo

-

-

Yuen2017 G

PIK3R5

MT_20.3

chr17:
8781947-8781947

T

A

downstream

De novo

-

-

Trost2022 G

PIK3R5

14604.p1

chr17:
8784802-8784802

T

A

intronic

Mosaic

-

-

Dou2017 E

PIK3R5

1-0683-004

chr17:
8808617-8808620

GTCA

ATG

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1287-003

chr17:
8808623-8808625

GTA

CTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

7-0233-003

chr17:
8808623-8808625

GTA

CTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1362-003

chr17:
8814770-8814770

C

T

exonic

De novo

synonymous SNV

NM_001142633
NM_014308

c.G42A
c.G42A

p.Q14Q
p.Q14Q

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PIK3R5

4-0028-003

chr17:
8808623-8808625

GTA

CTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1620-004

chr17:
8808623-8808625

GTA

CTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1287-003

chr17:
8808617-8808620

GTCA

ATG

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1620-004

chr17:
8808617-8808620

GTCA

ATG

intronic

De novo

-

-

Trost2022 G

PIK3R5

4-0028-003

chr17:
8808617-8808620

GTCA

ATG

intronic

De novo

-

-

Trost2022 G

PIK3R5

1-0206-004

chr17:
8808617-8808620

GTCA

ATG

intronic

De novo

-

-

Trost2022 G

PIK3R5

3-0485-000A

chr17:
8845607-8845607

G

A

intronic

De novo

-

-

Trost2022 G

PIK3R5

7-0387-004

chr17:
8845883-8845883

G

C

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1519-003

chr17:
8816587-8816589

CCA

C

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-0307-003

chr17:
8910455-8910455

C

CTT

intergenic

De novo

-

-

Yuen2017 G

PIK3R5

MSSNG00116-003

chr17:
8817522-8817522

G

C

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1620-004

chr17:
8808637-8808646

CCCCCCTGTC

TTACGGATAA

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1659-003

chr17:
8814835-8814835

G

C

intronic

De novo

-

-

Trost2022 G

PIK3R5

1-0206-004

chr17:
8808623-8808625

GTA

CTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

2-1620-004

chr17:
8808628-8808633

CATTTG

GTGTT

intronic

De novo

-

-

Trost2022 G

PIK3R5

AU2793301

chr17:
8833521-8833521

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3R5

5-0097-003

chr17:
8864122-8864122

G

A

intronic

De novo

-

-

Trost2022 G

PIK3R5

1-0864-003

chr17:
8865967-8865967

C

T

intronic

De novo

-

-

Trost2022 G

PIK3R5

SJD_50.5

chr17:
8846022-8846022

A

T

intronic

De novo

-

-

Trost2022 G

PIK3R5

AU2463301

chr17:
8851284-8851284

C

T

intronic

De novo

-

-

Trost2022 G

PIK3R5

7-0255-003

chr17:
8883529-8883529

A

G

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
	More