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Results for "PLEKHG4B"

Variant Events: 17

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
PLEKHG4B     SP0042686chr5:
143626-143626
GAintronicDe novo-8.49E-5Fu2022 E
Trost2022 G
Zhou2022 GE
PLEKHG4B     AGG0022chr5:
181777-181777
CTexonicDe novosynonymous SNVNM_052909c.C3483Tp.I1161I--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PLEKHG4B     SP0115698chr5:
161926-161926
CTexonicDe novononsynonymous SNVNM_052909c.C1448Tp.A483V0.9512.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
PLEKHG4B     GM173332chr5:
171404-171404
TCexonicDe novononsynonymous SNVNM_052909c.T2827Cp.Y943H13.55-Fu2022 E
PLEKHG4B     mAGRE1557chr5:
163539-163540
GCGexonicPaternalframeshift deletionNM_052909c.2285delCp.A762fs--Cirnigliaro2023 G
PLEKHG4B     AU4089301chr5:
188821-188821
CAUTR3De novo--Trost2022 G
Yuen2017 G
PLEKHG4B     mAGRE5693chr5:
163101-163101
CTexonicPaternalstopgainNM_052909c.C1846Tp.Q616X23.8-Cirnigliaro2023 G
PLEKHG4B     13196.p1chr5:
171260-171260
GAintronicDe novo-3.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PLEKHG4B     MT_33.3chr5:
140787-140787
CTexonicDe novononsynonymous SNVNM_052909c.C365Tp.P122L9.265-Trost2022 G
Zhou2022 GE
PLEKHG4B     1-1024-003chr5:
183960-183960
TAUTR3De novo--Trost2022 G
PLEKHG4B     AU2207301chr5:
142009-142009
CTintronicDe novo--Trost2022 G
PLEKHG4B     SSC06698chr5:
171260-171260
GAintronicDe novo-3.0E-4Trost2022 G
PLEKHG4B     iHART1557chr5:
163539-163540
GCGexonicPaternalframeshift deletionNM_052909c.2285delCp.A762fs--Ruzzo2019 G
PLEKHG4B     SMHC01654s000chr5:
144985-144985
CTexonicDe novononsynonymous SNVNM_052909c.C787Tp.R263C13.752.515E-5Yuan2023 E
PLEKHG4B     mAGRE5410chr5:
143279-143279
CCAexonicPaternalframeshift insertionNM_052909c.528dupAp.P176fs--Cirnigliaro2023 G
PLEKHG4B     2-1167-003chr5:
159367-159367
TAintronicDe novo--Yuen2016 G
Yuen2017 G
PLEKHG4B     SP0013169chr5:
173160-173160
AGexonicDe novononsynonymous SNVNM_052909c.A3131Gp.Y1044C12.61-Fu2022 E
Trost2022 G
Zhou2022 GE
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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