Variant Results

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Results for "PIP4K2B"

Variant Events: 13

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

PIP4K2B

SP0098450

chr17:
36955441-36955441

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

PIP4K2B

2-1169-004

chr17:
36933515-36933515

G

GAGGT

intronic

De novo

-

-

Trost2022 G

PIP4K2B

2-1362-003

chr17:
36933515-36933515

G

GAGGT

intronic

De novo

-

-

Trost2022 G

PIP4K2B

13718.p1

chr17:
36927464-36927464

C

T

exonic

Mosaic

nonsynonymous SNV

NM_003559

c.G869A

p.R290Q

28.6

-

Krupp2017 E

PIP4K2B

MT_168.3

chr17:
36929834-36929834

G

C

intronic

De novo

-

-

Trost2022 G

PIP4K2B

613-14848

chr17:
36935652-36935652

C

T

exonic

nonsynonymous SNV

NM_003559

c.G638A

p.R213H

28.0

-

Callaghan2019 G

PIP4K2B

1-0329-004

chr17:
36923434-36923434

A

G

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

PIP4K2B

5-0146-003

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_003559
NM_003559

c.1057_1066del
c.1048_1057del

p.S353fs
p.A350fs

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIP4K2B

2-0129-005

chr17:
36933518-36933520

ATG

TGAGGTC

intronic

De novo

-

-

Trost2022 G

PIP4K2B

2-0129-005

chr17:
36933515-36933515

G

GAGGT

intronic

De novo

-

-

Trost2022 G

PIP4K2B

09C89011

chr17:
36955630-36955630

G

C

exonic

De novo

synonymous SNV

NM_003559

c.C48G

p.L16L

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

PIP4K2B

2-1362-003

chr17:
36933518-36933520

ATG

TGAGGTC

intronic

De novo

-

-

Trost2022 G

PIP4K2B

F1948-1

chr17:
36932284-36932284

C

T

intronic

De novo

-

-

Satterstrom2020 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
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