Variant Results

or

Results for "PCDH1"

Variant Events: 11

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

PCDH1

More2023:15

chr5:
141243507-141243507

G

A

exonic

Inherited

nonsynonymous SNV

NM_001278615
NM_001278613
NM_002587
NM_032420

c.C1252T
c.C2437T
c.C2389T
c.C2389T

p.R418C
p.R813C
p.R797C
p.R797C

14.8

4.194E-5

More2023 G

PCDH1

AU1436302

chr5:
141233956-141233956

C

T

exonic

De novo

nonsynonymous SNV

NM_032420

c.G3365A

p.R1122Q

3.162

1.734E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCDH1

13023_p1

chr5:
141243011-141243011

C

A

exonic

De novo

nonsynonymous SNV

NM_001278615
NM_001278613
NM_002587
NM_032420

c.G1748T
c.G2933T
c.G2885T
c.G2885T

p.S583I
p.S978I
p.S962I
p.S962I

17.23

-

Fu2022 E

PCDH1

SP0133840

chr5:
141244787-141244787

C

T

exonic

De novo

nonsynonymous SNV

NM_001278613
NM_002587
NM_032420

c.G1157A
c.G1109A
c.G1109A

p.R386H
p.R370H
p.R370H

23.5

8.237E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

PCDH1

1-0191-003

chr5:
141248230-141248230

G

A

exonic

De novo

synonymous SNV

NM_001278613
NM_002587
NM_032420

c.C855T
c.C807T
c.C807T

p.T285T
p.T269T
p.T269T

-

2.56E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

PCDH1

SP0205284

chr5:
141248305-141248305

G

A

exonic

De novo

synonymous SNV

NM_001278613
NM_002587
NM_032420

c.C780T
c.C732T
c.C732T

p.D260D
p.D244D
p.D244D

-

Trost2022 G

PCDH1

AM03ZF-03

chr5:
141252847-141252847

C

T

intronic

De novo

-

Trost2022 G

PCDH1

2-0286-004

chr5:
141244257-141244257

G

A

exonic

De novo

nonsynonymous SNV

NM_001278615
NM_001278613
NM_002587
NM_032420

c.C502T
c.C1687T
c.C1639T
c.C1639T

p.P168S
p.P563S
p.P547S
p.P547S

10.58

8.242E-6

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PCDH1

13023.p1

chr5:
141243011-141243011

C

A

exonic

De novo

nonsynonymous SNV

NM_001278615
NM_001278613
NM_002587
NM_032420

c.G1748T
c.G2933T
c.G2885T
c.G2885T

p.S583I
p.S978I
p.S962I
p.S962I

17.23

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G
Zhou2022 GE

PCDH1

1-0325-003

chr5:
141249505-141249505

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCDH1

1-0489-003

chr5:
141264862-141264877

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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