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Results for "PLEKHN1"

Variant Events: 11

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
PLEKHN1     mAGRE1029chr1:
905962-905962
CAexonicMaternalstopgainNM_001160184
NM_032129
c.C392A
c.C392A
p.S131X
p.S131X
18.488.387E-6Cirnigliaro2023 G
PLEKHN1     MCD-007-3chr1:
906538-906538
GAexonicPaternalnonsynonymous SNVNM_001160184
NM_032129
c.G694A
c.G658A
p.G232S
p.G220S
11.16.431E-5Tuncay2023 G
PLEKHN1     MCD-007-3chr1:
909315-909315
GAexonicMaternalnonsynonymous SNVNM_001160184
NM_032129
c.G1432A
c.G1537A
p.G478S
p.G513S
2.8312.693E-5Tuncay2023 G
PLEKHN1     AU2787301chr1:
910460-910460
GAUTR3De novo--Trost2022 G
Yuen2017 G
PLEKHN1     SP0021287chr1:
901926-901926
CTexonicDe novosynonymous SNVNM_001160184
NM_032129
c.C15T
c.C15T
p.H5H
p.H5H
--Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
PLEKHN1     iHART1029chr1:
905962-905962
CAexonicMaternalstopgainNM_001160184
NM_032129
c.C392A
c.C392A
p.S131X
p.S131X
18.488.387E-6Ruzzo2019 G
PLEKHN1     SP0053415chr1:
906494-906494
GAexonicDe novononsynonymous SNVNM_001160184
NM_032129
c.G650A
c.G614A
p.R217H
p.R205H
0.5219.584E-5Fu2022 E
Trost2022 G
Zhou2022 GE
PLEKHN1     Wang2023:318chr1:
907513-907513
GAexonicDe novononsynonymous SNVNM_001160184
NM_032129
c.G884A
c.G848A
p.R295H
p.R283H
5.2143.342E-5Wang2023 E
PLEKHN1     JASD_Fam0077chr1:
905674-905674
GAexonicDe novosynonymous SNVNM_001160184
NM_032129
c.G201A
c.G201A
p.E67E
p.E67E
--Takata2018 E
PLEKHN1     2-1178-003chr1:
908494-908494
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PLEKHN1     mAGRE5723chr1:
906784-906784
GGGTGGGCCCCTCCCCACTexonicMaternalframeshift insertionNM_001160184
NM_032129
c.825_826insGTGGGCCCCTCCCCACT
c.789_790insGTGGGCCCCTCCCCACT
p.K275fs
p.K263fs
-3.136E-5Cirnigliaro2023 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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