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Results for "PLEKHA5"

Variant Events: 42

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     A22chr12:
19384111-19384111
GCintronicDe novo--Wu2018 G
PLEKHA5     AU3636302chr12:
19511609-19511609
CAintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     2-1366-003chr12:
19307777-19307777
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     AU1725306chr12:
19501313-19501313
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     iHART2305chr12:
19423140-19423140
GAsplicingMaternalsplicing16.99-Ruzzo2019 G
PLEKHA5     2-1426-003chr12:
19392075-19392075
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     1-0162-004chr12:
19339016-19339016
CTintronicDe novo--Yuen2017 G
PLEKHA5     2-1189-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PLEKHA5     2-1265-003chr12:
19386123-19386123
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PLEKHA5     SP0342935chr12:
19499949-19499949
CTexonicnonsynonymous SNVNM_001256787
NM_001256470
c.C2179T
c.C2731T
p.R727C
p.R911C
21.7-Zhou2022 GE
PLEKHA5     1-0257-003chr12:
19543801-19543801
CTintergenicDe novo--Yuen2017 G
PLEKHA5     SP0026282chr12:
19413894-19413894
CTexonicDe novosynonymous SNVNM_001256787
NM_001143821
NM_001256470
NM_019012
c.C225T
c.C549T
c.C549T
c.C549T
p.G75G
p.G183G
p.G183G
p.G183G
--Trost2022 G
Zhou2022 GE
PLEKHA5     2-0070-004chr12:
19353009-19353009
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     1-0338-005chr12:
19463653-19463653
AACCAGintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     1-0445-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
PLEKHA5     REACH000092chr12:
19339657-19339657
GAintronicDe novo--Trost2022 G
PLEKHA5     AU023012chr12:
19363594-19363594
AGintronicDe novo--Trost2022 G
PLEKHA5     2-1238-003chr12:
19330716-19330716
AAGintronicDe novo--Trost2022 G
PLEKHA5     MSSNG00381-003chr12:
19331291-19331291
AGintronicDe novo--Trost2022 G
PLEKHA5     AU4153301chr12:
19424711-19424711
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     MT_195.4chr12:
19445540-19445540
GCintronicDe novo--Trost2022 G
PLEKHA5     3-0713-000chr12:
19478856-19478856
GAintronicDe novo--Trost2022 G
PLEKHA5     5-0110-003chr12:
19445050-19445050
GTintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     3-0086-000chr12:
19396523-19396523
ATintronicDe novo--Trost2022 G
PLEKHA5     1-1020-003Achr12:
19403952-19403952
CAintronicDe novo--Trost2022 G
PLEKHA5     7-0413-003chr12:
19384478-19384478
GTintronicDe novo--Trost2022 G
PLEKHA5     7-0332-003chr12:
19385680-19385680
CTintronicDe novo--Trost2022 G
PLEKHA5     3-0607-001chr12:
19364305-19364305
CTintronicDe novo--Trost2022 G
PLEKHA5     AU2427301chr12:
19507059-19507059
TAintronicDe novo--Yuen2017 G
PLEKHA5     1-0548-003chr12:
19371898-19371898
CCTintronicDe novo--Trost2022 G
PLEKHA5     SP0050181chr12:
19353371-19353371
CAUTR3De novo--Fu2022 E
PLEKHA5     SP0073128chr12:
19427615-19427615
GAexonicDe novosynonymous SNVNM_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
Trost2022 G
Zhou2022 GE
PLEKHA5     MSSNG00196-003chr12:
19526786-19526786
CTintronicDe novo--Trost2022 G
PLEKHA5     14108.p1chr12:
19584957-19584957
CGintergenicDe novo--Wilfert2021 G
PLEKHA5     SP0076773chr12:
19467803-19467803
CTexonicDe novononsynonymous SNVNM_001256787
NM_001256470
c.C1577T
c.C2093T
p.A526V
p.A698V
20.6-Fu2022 E
Zhou2022 GE
PLEKHA5     2-1198-003chr12:
19482816-19482816
AGintronicDe novo--Trost2022 G
PLEKHA5     2-1719-003chr12:
19429611-19429611
GCintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     REACH000640chr12:
19497033-19497033
AGintronicDe novo--Trost2022 G
PLEKHA5     AU049304chr12:
19383401-19383401
CTintronicDe novo--Trost2022 G
Yuen2017 G
PLEKHA5     mAGRE4353chr12:
19489479-19489479
ATexonicMaternalstopgainNM_001256787
NM_019012
NM_001143821
NM_001256470
c.A1927T
c.A2170T
c.A2344T
c.A2479T
p.K643X
p.K724X
p.K782X
p.K827X
28.4-Cirnigliaro2023 G
PLEKHA5     13942.p1chr12:
19521464-19521464
CTintronicDe novo--Turner2016 G
PLEKHA5     mAGRE2305chr12:
19423140-19423140
GAsplicingMaternalsplicing16.99-Cirnigliaro2023 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 notesView
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