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Results for "PLEKHA6"

Variant Events: 13

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
PLEKHA6     iHART2553chr1:
204230537-204230537
CAexonicPaternalstopgainNM_014935c.G421Tp.E141X39.0-Ruzzo2019 G
PLEKHA6     AU4444304chr1:
204270393-204270393
CTintronicDe novo--Yuen2017 G
PLEKHA6     A21chr1:
204259651-204259651
GAintronicDe novo--Wu2018 G
PLEKHA6     7-0082-003chr1:
204263857-204263857
CTintronicDe novo--Yuen2017 G
PLEKHA6     Chen2017:94chr1:
204237413-204237413
CTexonicDe novononsynonymous SNVNM_014935c.G130Ap.A44T7.761.653E-5Chen2017 E
PLEKHA6     2-1431-003chr1:
204295287-204295287
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PLEKHA6     2-1391-003chr1:
204334979-204334979
GAintergenicDe novo--Yuen2017 G
PLEKHA6     1-0458-003chr1:
204329419-204329419
CAupstreamDe novo--Yuen2017 G
PLEKHA6     2-1094-005chr1:
204297562-204297562
TCintronicDe novo--Yuen2017 G
PLEKHA6     14292.p1chr1:
204218371-204218371
CTexonicMosaic, De novononsynonymous SNVNM_014935c.G1615Ap.E539K33.0-Dou2017 E
Ji2016 E
Krumm2015 E
PLEKHA6     1-0045-003chr1:
204291161-204291161
TCintronicDe novo--Yuen2017 G
PLEKHA6     2-1378-003chr1:
204284067-204284067
CTintronicDe novo--Yuen2017 G
PLEKHA6     11615.p1chr1:
204329288-204329288
CAupstreamDe novo--Wilfert2021 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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