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Results for "PLEKHA4"

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
PLEKHA4     SP0016459chr19:
49348669-49348669
GAexonicDe novosynonymous SNVNM_001161354
NM_020904
c.C1626T
c.C1701T
p.S542S
p.S567S
-1.0E-4Feliciano2019 E
Fu2022 E
PLEKHA4     SSC05911chr19:
49341342-49341342
CTexonicDe novononsynonymous SNVNM_020904c.G2009Ap.R670Q15.94-Lim2017 E
PLEKHA4     13168.p1chr19:
49348718-49348718
CTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PLEKHA4     2-0219-004chr19:
49367761-49367762
CACintronicDe novo--Yuen2017 G
PLEKHA4     7-0127-003chr19:
49360198-49360198
AAAAAGintronicDe novo--Yuen2017 G
PLEKHA4     12865.p1chr19:
49341342-49341342
CTexonicDe novo, Mosaicnonsynonymous SNVNM_020904c.G2009Ap.R670Q15.94-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
PLEKHA4     P1100chr19:
49355561-49355561
GAexonicDe novononsynonymous SNVNM_001161354
NM_020904
c.C1274T
c.C1349T
p.T425M
p.T450M
15.168.24E-6Hashimoto2016 E
PLEKHA4     AU002903chr19:
49371335-49371337
CTTCTTTintronicDe novo--Yuen2017 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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