Variant Results

or

or

Results for "PLEKHM3"

Variant Events: 18

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

PLEKHM3

5-0040-003

chr2:
208743417-208743417

T

TAAAACTG

intronic

De novo

-

-

Yuen2017 G

PLEKHM3

2-1153-003

chr2:
208942811-208942811

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PLEKHM3

7-0106-003

chr2:
208975496-208975496

G

A

intergenic

De novo

-

-

Yuen2017 G

PLEKHM3

14664.p1

chr2:
208977087-208977087

G

C

intergenic

Mosaic

-

-

Dou2017 E

PLEKHM3

12793.p1

chr2:
208762160-208762160

G

C

intronic

De novo

-

-

Turner2016 G

PLEKHM3

12011.p1

chr2:
208766675-208766675

C

T

intronic

De novo

-

-

Turner2016 G

PLEKHM3

80001100861

chr2:
208866196-208866196

G

C

exonic

De novo

nonsynonymous SNV

NM_001080475

c.C168G

p.D56E

3.779

-

Fu2022 E
Satterstrom2020 E

PLEKHM3

1-0261-004

chr2:
208964606-208964606

C

T

intergenic

De novo

-

-

Yuen2017 G

PLEKHM3

2-1160-003

chr2:
208970468-208970468

G

A

intergenic

De novo

-

-

Yuen2017 G

PLEKHM3

2-0244-004

chr2:
208925080-208925080

G

A

intergenic

De novo

-

-

Yuen2017 G

PLEKHM3

1-0387-003

chr2:
208731893-208731893

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PLEKHM3

AU066104

chr2:
208846077-208846077

T

C

intronic

De novo

-

-

Yuen2017 G

PLEKHM3

13789.p1

chr2:
208693067-208693067

G

A

exonic

Mosaic

synonymous SNV

NM_001080475

c.C2262T

p.F754F

-

Dou2017 E

PLEKHM3

2-1374-003

chr2:
208822438-208822438

A

C

intronic

De novo

-

-

Yuen2017 G

PLEKHM3

AU3905302

chr2:
208833946-208833946

T

C

intronic

De novo

-

-

Yuen2017 G

PLEKHM3

Cukier2014:7713

chr2:
208842276-208842276

C

G

exonic

Unknown

nonsynonymous SNV

NM_001080475

c.G645C

p.K215N

16.96

Cukier2014 E

PLEKHM3

DEASD_0252_001

chr2:
208795603-208795603

C

A

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E

PLEKHM3

AU4283301

chr2:
208708865-208708865

C

T

intronic

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
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