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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
8.753E-6
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
1.653E-5
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
1.653E-5
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
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, -
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
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