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Results for "PCDHA11"

Variant Events: 5

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
PCDHA11     SSC10448chr5:
140249739-140249739
GAexonicDe novononsynonymous SNVNM_018902
NM_031861
c.G1051A
c.G1051A
p.V351M
p.V351M
5.932-Lim2017 E
PCDHA11     13154.p1chr5:
140250174-140250174
CTexonicMosaic, De novononsynonymous SNVNM_018902
NM_031861
c.C1486T
c.C1486T
p.R496W
p.R496W
16.52-Dou2017 E
Ji2016 E
Krupp2017 E
PCDHA11     14177.p1chr5:
140249739-140249739
GAexonicDe novononsynonymous SNVNM_018902
NM_031861
c.G1051A
c.G1051A
p.V351M
p.V351M
5.932-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PCDHA11     iHART1073chr5:
140249606-140249611
TTTAGATexonicPaternalframeshift deletionNM_018902
NM_031861
c.919_923del
c.919_923del
p.L307fs
p.L307fs
--Ruzzo2019 G
PCDHA11     iHART2705chr5:
140249021-140249022
CACexonicMaternalframeshift deletionNM_018902
NM_031861
c.334delA
c.334delA
p.R112fs
p.R112fs
--Ruzzo2019 G
Source Variant Information

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Source:

Paper alias:

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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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