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Results for "PLEKHH1"

Variant Events: 7

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
PLEKHH1     1-0433-003chr14:
68005871-68005871
AGintronicDe novo--Yuen2017 G
PLEKHH1     SP0130874chr14:
68028815-68028815
CTintronicDe novo-3.421E-5Fu2022 E
PLEKHH1     SP0077302chr14:
68029244-68029244
CAexonicDe novononsynonymous SNVNM_020715c.C896Ap.T299N7.829-Fu2022 E
PLEKHH1     1-0387-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PLEKHH1     2-1281-003chr14:
68026896-68026896
CTintronicDe novo--Yuen2017 G
PLEKHH1     2-1406-003chr14:
68053177-68053177
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PLEKHH1     iHART1848chr14:
68043197-68043201
TGATGTexonicMaternalframeshift deletionNM_020715c.2439_2442delp.L813fs--Ruzzo2019 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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