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Results for "PLEKHG4"

Variant Events: 6

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
PLEKHG4     JASD_Fam0049chr16:
67315085-67315085
CTexonicDe novostopgainNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.C568T
c.C811T
c.C811T
c.C811T
p.Q190X
p.Q271X
p.Q271X
p.Q271X
55.0-Takata2018 E
PLEKHG4     mAGRE2314chr16:
67320447-67320447
GGCexonicPaternalframeshift insertionNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.2390dupC
c.2633dupC
c.2633dupC
c.2633dupC
p.A797fs
p.A878fs
p.A878fs
p.A878fs
-2.957E-5Cirnigliaro2023 G
PLEKHG4     iHART2314chr16:
67320447-67320447
GGCexonicPaternalframeshift insertionNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.2390dupC
c.2633dupC
c.2633dupC
c.2633dupC
p.A797fs
p.A878fs
p.A878fs
p.A878fs
-2.957E-5Ruzzo2019 G
PLEKHG4     AU3605304chr16:
67318249-67318250
TGTexonicPaternalframeshift deletionNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.1339delG
c.1582delG
c.1582delG
c.1582delG
p.G447fs
p.G528fs
p.G528fs
p.G528fs
-4.207E-5Cirnigliaro2023 G
PLEKHG4     1-0720-003chr16:
67314806-67314806
GAexonicDe novononsynonymous SNVNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.G374A
c.G617A
c.G617A
c.G617A
p.R125Q
p.R206Q
p.R206Q
p.R206Q
28.58.28E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
PLEKHG4     SP0030457chr16:
67314940-67314940
GAintronicDe novo--Fu2022 E
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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