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Results for "PLEKHG2"

Variant Events: 12

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
PLEKHG2     5920chr19:
39915562-39915562
ACexonicDe novosynonymous SNVNM_022835c.A3789Cp.P1263P6.1131.649E-5Trost2022 G
PLEKHG2     13346.p1chr19:
39915562-39915562
ACexonicDe novosynonymous SNVNM_022835c.A3789Cp.P1263P6.1131.649E-5Satterstrom2020 E
PLEKHG2     mAGRE4586chr19:
39914467-39914467
GAexonicMaternalstopgainNM_022835c.G2694Ap.W898X36.08.239E-6Cirnigliaro2023 G
PLEKHG2     mAGRE4584chr19:
39914467-39914467
GAexonicMaternalstopgainNM_022835c.G2694Ap.W898X36.08.239E-6Cirnigliaro2023 G
PLEKHG2     12781_p1chr19:
39915515-39915515
GAexonicDe novononsynonymous SNVNM_022835c.G3742Ap.V1248I11.83.295E-5Fu2022 E
PLEKHG2     12781.p1chr19:
39915515-39915515
GAexonicDe novononsynonymous SNVNM_022835c.G3742Ap.V1248I11.83.295E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
PLEKHG2     SSC08475chr19:
39915562-39915562
ACexonicDe novosynonymous SNVNM_022835c.A3789Cp.P1263P6.1131.649E-5Fu2022 E
PLEKHG2     SP0110401chr19:
39914926-39914926
CGexonicDe novosynonymous SNVNM_022835c.C3153Gp.T1051T1.842-Fu2022 E
Trost2022 G
Zhou2022 GE
PLEKHG2     SP0051826chr19:
39913846-39913846
CAexonicDe novononsynonymous SNVNM_022835c.C2152Ap.P718T5.957-Fu2022 E
Zhou2022 GE
PLEKHG2     SMHC01748s000chr19:
39913447-39913447
GAexonicDe novononsynonymous SNVNM_022835c.G1753Ap.A585T18.1-Yuan2023 E
PLEKHG2     SP0061215chr19:
39908665-39908665
CTexonicDe novononsynonymous SNVNM_022835c.C1003Tp.R335W20.8-Fu2022 E
Zhou2022 GE
PLEKHG2     4-0007-003chr19:
39917657-39917660
CGTTCUTR3De novo--Trost2022 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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