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Results for "PCDHA1"

Variant Events: 9

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
PCDHA1     12494.p1chr5:
140391002-140391002
GAUTR3De novo--Iossifov2014 E
Kosmicki2017 E
PCDHA1     11002.p1chr5:
140206257-140206257
GAintronicDe novo--Turner2016 G
PCDHA1     AU3721302chr5:
140283787-140283787
AGintronicDe novo--Yuen2017 G
PCDHA1     1-0099-003chr5:
140193318-140193318
TCintronicDe novo--Yuen2017 G
PCDHA1     Bruno2021:IIIchr5:
140166548-140166548
AAGGTAexonicDe novoframeshift insertionNM_018900
NM_031410
NM_031411
c.673_674insGGTA
c.673_674insGGTA
c.673_674insGGTA
p.T225fs
p.T225fs
p.T225fs
--Bruno2021 E
PCDHA1     SP0037584chr5:
140362092-140362092
GAexonicDe novononsynonymous SNVNM_018898
NM_018899
NM_018900
NM_018901
NM_018902
NM_018903
NM_018904
NM_018905
NM_018906
NM_018907
NM_018908
NM_018909
NM_018910
NM_018911
NM_031411
NM_031849
NM_031857
NM_031860
c.G2525A
c.G2657A
c.G2486A
c.G2480A
c.G2483A
c.G2459A
c.G2486A
c.G2480A
c.G2486A
c.G2477A
c.G2444A
c.G2486A
c.G2447A
c.G2486A
c.G1694A
c.G1694A
c.G2486A
c.G1691A
p.R842Q
p.R886Q
p.R829Q
p.R827Q
p.R828Q
p.R820Q
p.R829Q
p.R827Q
p.R829Q
p.R826Q
p.R815Q
p.R829Q
p.R816Q
p.R829Q
p.R565Q
p.R565Q
p.R829Q
p.R564Q
21.98.246E-6Fu2022 E
PCDHA1     2-1196-003chr5:
140414929-140414929
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PCDHA1     3-0392-000chr5:
140121640-140121640
CAintergenicDe novo--Yuen2016 G
PCDHA1     AU2023302chr5:
140403464-140403468
CTGTGCTGintergenicDe 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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