Variant Results

or

or

Results for "PLEKHA6"

Variant Events: 24

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

PLEKHA6

iHART2553

chr1:
204230537-204230537

C

A

exonic

Paternal

stopgain

NM_014935

c.G421T

p.E141X

39.0

-

Ruzzo2019 G

PLEKHA6

1-1063-003

chr1:
204311144-204311144

T

C

intronic

De novo

-

-

Trost2022 G

PLEKHA6

SJD_74.3

chr1:
204294505-204294505

T

G

intronic

De novo

-

-

Trost2022 G

PLEKHA6

mAGRE2553

chr1:
204230537-204230537

C

A

exonic

Paternal

stopgain

NM_014935

c.G421T

p.E141X

39.0

-

Cirnigliaro2023 G

PLEKHA6

AU4444304

chr1:
204270393-204270393

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

mAGRE5935

chr1:
204228870-204228870

T

C

splicing

Paternal

splicing

12.69

Cirnigliaro2023 G

PLEKHA6

A21

chr1:
204259651-204259651

G

A

intronic

De novo

-

-

Wu2018 G

PLEKHA6

AU3905301

chr1:
204210944-204210944

T

C

splicing

Paternal

splicing

10.7

-

Cirnigliaro2023 G

PLEKHA6

7-0082-003

chr1:
204263857-204263857

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

Chen2017:94

chr1:
204237413-204237413

C

T

exonic

De novo

nonsynonymous SNV

NM_014935

c.G130A

p.A44T

7.76

Chen2017 E

PLEKHA6

2-1431-003

chr1:
204295287-204295287

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PLEKHA6

2-1391-003

chr1:
204334979-204334979

G

A

intergenic

De novo

-

-

Yuen2017 G

PLEKHA6

1-0458-003

chr1:
204329419-204329419

C

A

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

2-1094-005

chr1:
204297562-204297562

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

200675641_1082034789

chr1:
204237413-204237413

C

T

exonic

De novo

nonsynonymous SNV

NM_014935

c.G130A

p.A44T

7.76

Fu2022 E

PLEKHA6

3-0244-000

chr1:
204224596-204224596

G

A

intronic

De novo

-

-

Trost2022 G

PLEKHA6

7-0189-003

chr1:
204210768-204210768

G

A

intronic

De novo

-

-

Trost2022 G

PLEKHA6

7-0397-003

chr1:
204251577-204251577

T

TC

intronic

De novo

-

-

Trost2022 G

PLEKHA6

4-0043-003

chr1:
204232698-204232698

G

A

intronic

De novo

-

-

Trost2022 G

PLEKHA6

14292.p1

chr1:
204218371-204218371

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_014935

c.G1615A

p.E539K

33.0

-

Dou2017 E
Ji2016 E
Krumm2015 E

PLEKHA6

1-0045-003

chr1:
204291161-204291161

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

MSSNG00203-003

chr1:
204207571-204207571

C

T

intronic

De novo

-

-

Trost2022 G

PLEKHA6

2-1378-003

chr1:
204284067-204284067

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLEKHA6

11615.p1

chr1:
204329288-204329288

C

A

upstream

De novo

-

-

Wilfert2021 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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