Variant Results

or

Results for "PLEKHA4"

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

PLEKHA4

SP0016459

chr19:
49348669-49348669

G

A

exonic

De novo

synonymous SNV

NM_001161354
NM_020904

c.C1626T
c.C1701T

p.S542S
p.S567S

-

1.0E-4

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

PLEKHA4

SSC05911

chr19:
49341342-49341342

C

T

exonic

De novo

nonsynonymous SNV

NM_020904

c.G2009A

p.R670Q

15.94

-

Lim2017 E

PLEKHA4

13168.p1

chr19:
49348718-49348718

C

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PLEKHA4

mAGRE4318

chr19:
49362758-49362758

A

AG

exonic

Maternal

frameshift insertion

NM_001161354
NM_020904

c.659dupC
c.659dupC

p.S220fs
p.S220fs

-

8.317E-6

Cirnigliaro2023 G

PLEKHA4

2-0219-004

chr19:
49367761-49367762

CA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLEKHA4

7-0127-003

chr19:
49360198-49360198

A

AAAAG

intronic

De novo

-

Yuen2017 G

PLEKHA4

12865.p1

chr19:
49341342-49341342

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_020904

c.G2009A

p.R670Q

15.94

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE

PLEKHA4

P1100

chr19:
49355561-49355561

G

A

exonic

De novo

nonsynonymous SNV

NM_001161354
NM_020904

c.C1274T
c.C1349T

p.T425M
p.T450M

15.16

8.24E-6

Hashimoto2016 E

PLEKHA4

AU002903

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PLEKHA4

2-1522-003

chr19:
49371869-49371892

TCTGCTGGTCTTTCCCTGCCTCTG

T

UTR5

De novo

-

Trost2022 G

PLEKHA4

SSC07048

chr19:
49348718-49348718

C

T

intronic

De novo

-

Trost2022 G

PLEKHA4

1-1165-003

chr19:
49343401-49343401

G

A

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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