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Results for "PLEKHG5"

Variant Events: 8

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
PLEKHG5     Li2017:17694chr1:
6527894-6527894
AGexonicUnknownnonsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_020631
NM_001042663
NM_001265592
NM_198681
c.T3002C
c.T3002C
c.T3209C
c.T3002C
c.T3170C
c.T3239C
c.T3233C
p.L1001P
p.L1001P
p.L1070P
p.L1001P
p.L1057P
p.L1080P
p.L1078P
22.7-Li2017 T
PLEKHG5     5-0042-003chr1:
6544748-6544748
ATintronicDe novo--Yuen2017 G
PLEKHG5     A12chr1:
6531616-6531616
CTexonicDe novononsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681
c.G1213A
c.G1213A
c.G1420A
c.G1213A
c.G1213A
c.G1381A
c.G1450A
c.G1444A
p.V405M
p.V405M
p.V474M
p.V405M
p.V405M
p.V461M
p.V484M
p.V482M
10.95-Wu2018 G
PLEKHG5     2-1318-004chr1:
6531081-6531081
CTexonicDe novononsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681
c.G1361A
c.G1361A
c.G1568A
c.G1361A
c.G1361A
c.G1529A
c.G1598A
c.G1592A
p.R454H
p.R454H
p.R523H
p.R454H
p.R454H
p.R510H
p.R533H
p.R531H
18.65-Yuen2017 G
PLEKHG5     74-0481chr1:
6530645-6530645
TCexonicInheritednonsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681
c.A1601G
c.A1601G
c.A1808G
c.A1601G
c.A1601G
c.A1769G
c.A1838G
c.A1832G
p.E534G
p.E534G
p.E603G
p.E534G
p.E534G
p.E590G
p.E613G
p.E611G
26.9-Patowary2019 E
PLEKHG5     A4chr1:
6533312-6533312
CTexonicDe novononsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681
c.G794A
c.G794A
c.G1001A
c.G794A
c.G794A
c.G962A
c.G1031A
c.G1025A
p.R265Q
p.R265Q
p.R334Q
p.R265Q
p.R265Q
p.R321Q
p.R344Q
p.R342Q
24.4-Wu2018 G
PLEKHG5     72-1921chr1:
6530645-6530645
TCexonicInheritednonsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681
c.A1601G
c.A1601G
c.A1808G
c.A1601G
c.A1601G
c.A1769G
c.A1838G
c.A1832G
p.E534G
p.E534G
p.E603G
p.E534G
p.E534G
p.E590G
p.E613G
p.E611G
26.9-Patowary2019 E
PLEKHG5     Li2017:23067chr1:
6537675-6537675
GAexonicUnknownnonsynonymous SNVNM_001265593
NM_001042663
NM_001265592
NM_198681
c.C164T
c.C125T
c.C194T
c.C188T
p.P55L
p.P42L
p.P65L
p.P63L
26.4-Li2017 T
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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