Variant Results

or

or

Results for "PLEKHA5"

Variant Events: 23

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

PLEKHA5

A22

chr12:
19384111-19384111

G

C

intronic

De novo

-

-

Wu2018 G

PLEKHA5

AU3636302

chr12:
19511609-19511609

C

A

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

AU4153301

chr12:
19424711-19424711

G

A

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

2-1366-003

chr12:
19307777-19307777

T

C

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

5-0110-003

chr12:
19445050-19445050

G

T

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

AU1725306

chr12:
19501313-19501313

T

C

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

iHART2305

chr12:
19423140-19423140

G

A

splicing

Maternal

splicing

16.99

-

Ruzzo2019 G

PLEKHA5

2-1426-003

chr12:
19392075-19392075

G

A

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

AU2427301

chr12:
19507059-19507059

T

A

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

1-0162-004

chr12:
19339016-19339016

C

T

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

SP0050181

chr12:
19353371-19353371

C

A

UTR3

De novo

-

-

Fu2022 E

PLEKHA5

2-1189-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

PLEKHA5

SP0073128

chr12:
19427615-19427615

G

A

exonic

De novo

synonymous SNV

NM_001256787
NM_001143821
NM_019012
NM_001256470

c.G669A
c.G993A
c.G993A
c.G1011A

p.K223K
p.K331K
p.K331K
p.K337K

-

-

Fu2022 E

PLEKHA5

2-1265-003

chr12:
19386123-19386123

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PLEKHA5

1-0257-003

chr12:
19543801-19543801

C

T

intergenic

De novo

-

-

Yuen2017 G

PLEKHA5

14108.p1

chr12:
19584957-19584957

C

G

intergenic

De novo

-

-

Wilfert2021 G

PLEKHA5

SP0076773

chr12:
19467803-19467803

C

T

exonic

De novo

nonsynonymous SNV

NM_001256787
NM_001256470

c.C1577T
c.C2093T

p.A526V
p.A698V

20.6

-

Fu2022 E

PLEKHA5

2-1719-003

chr12:
19429611-19429611

G

C

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

AU049304

chr12:
19383401-19383401

C

T

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

2-0070-004

chr12:
19353009-19353009

G

A

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

13942.p1

chr12:
19521464-19521464

C

T

intronic

De novo

-

-

Turner2016 G

PLEKHA5

1-0338-005

chr12:
19463653-19463653

A

ACCAG

intronic

De novo

-

-

Yuen2017 G

PLEKHA5

1-0445-003

chr12:
19410607-19410612

CTTGTT

CTT

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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