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Results for "PCDHGA11"

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
PCDHGA11     Shi2013:1chr5:
140801083-140801083
TGexonicInheritednonsynonymous SNVNM_018914
NM_032091
NM_032092
c.T289G
c.T289G
c.T289G
p.C97G
p.C97G
p.C97G
21.06.654E-5Shi2013 G
PCDHGA11     1-0158-003chr5:
140802723-140802726
CGTGCexonicDe novononframeshift deletionNM_018914
NM_032091
c.1930_1932del
c.1930_1932del
p.644_644del
p.644_644del
-0.0012Yuen2017 G
PCDHGA11     04C35260chr5:
140802134-140802135
ACAexonicDe novoframeshift deletionNM_018914
NM_032091
NM_032092
c.1341delC
c.1341delC
c.1341delC
p.N447fs
p.N447fs
p.N447fs
--Satterstrom2020 E
PCDHGA11     Shi2013:2chr5:
140801083-140801083
TGexonicInheritednonsynonymous SNVNM_018914
NM_032091
NM_032092
c.T289G
c.T289G
c.T289G
p.C97G
p.C97G
p.C97G
21.06.654E-5Shi2013 G
PCDHGA11     iHART2796chr5:
140801733-140801733
TGexonicPaternalstopgainNM_018914
NM_032091
NM_032092
c.T939G
c.T939G
c.T939G
p.Y313X
p.Y313X
p.Y313X
19.258.89E-6Ruzzo2019 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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