Variant Results

or

Results for "PLEKHB2"

Variant Events: 12

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

PLEKHB2

YP016

chr2:
131883481-131883481

A

ACTCAGCCCCCGGATGGAAAGTCAAAAGACTGCATGCTCCAGATTGTTTGTCG

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEKHB2

1-0330-004

chr2:
131907390-131907391

CA

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

PLEKHB2

9190768

chr2:
131897823-131897823

C

T

exonic

De novo

nonsynonymous SNV

NM_001267067
NM_001267068

c.C377T
c.C374T

p.P126L
p.P125L

1.261

8.349E-6

Fu2022 E

PLEKHB2

1-0330-004

chr2:
131897771-131897771

C

T

exonic

De novo

nonsynonymous SNV

NM_001267067
NM_001267068
NM_001309450
NM_001309448
NM_001309451
NM_001100623
NM_001267062
NM_001267063
NM_001267064
NM_001267065
NM_017958
NM_001309452

c.C325T
c.C322T
c.C209T
c.C311T
c.C308T
c.C455T
c.C455T
c.C452T
c.C476T
c.C479T
c.C452T
c.C311T

p.R109C
p.R108C
p.A70V
p.A104V
p.A103V
p.A152V
p.A152V
p.A151V
p.A159V
p.A160V
p.A151V
p.A104V

6.22

8.372E-6

Yuen2015 G
Yuen2017 G
Zhou2022 GE

PLEKHB2

1-0458-005

chr2:
131871060-131871060

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLEKHB2

5-0140-003

chr2:
131879407-131879407

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLEKHB2

1-1055-003

chr2:
131901517-131901517

C

G

intronic

De novo

-

Trost2022 G

PLEKHB2

4-0054-003

chr2:
131887365-131887372

TGCTTTTT

CACACCCA

intronic

De novo

-

Trost2022 G

PLEKHB2

MT_25.3

chr2:
131897068-131897068

C

G

intronic

De novo

-

Trost2022 G

PLEKHB2

2-1467-003

chr2:
131887361-131887362

AG

CC

intronic

De novo

-

Trost2022 G

PLEKHB2

4-0054-003

chr2:
131887361-131887362

AG

CC

intronic

De novo

-

Trost2022 G

PLEKHB2

7-0403-003

chr2:
131882576-131882576

C

T

intronic

De novo

-

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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