Variant Results

or

Results for "PCDH15"

Variant Events: 91

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

PCDH15

10.s1

chr10:
55583161-55583161

T

G

intronic

De novo

-

An2014 E

PCDH15

11002.p1

chr10:
56104524-56104524

T

C

intronic

De novo

-

Turner2016 G

PCDH15

1-0051-005

chr10:
55723657-55723657

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

14153.p1

chr10:
56436850-56436850

G

A

intronic

De novo

-

Turner2016 G

PCDH15

11194.p1

chr10:
55891225-55891225

A

G

intronic

De novo

-

Turner2016 G

PCDH15

1-0604-003

chr10:
56822539-56822539

C

A

intergenic

De novo

-

Yuen2017 G

PCDH15

A3

chr10:
57278582-57278582

G

A

intergenic

De novo

-

Wu2018 G

PCDH15

AU4235303

chr10:
57153562-57153562

C

G

intergenic

De novo

-

Yuen2017 G

PCDH15

11002.p1

chr10:
56501337-56501337

A

G

intronic

De novo

-

Turner2016 G

PCDH15

2-1702-003

chr10:
56896150-56896150

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

1-0906-003

chr10:
56398120-56398120

C

A

intronic

De novo

-

Yuen2017 G

PCDH15

AU3398301

chr10:
55978157-55978157

C

G

intronic

De novo

-

Yuen2017 G

PCDH15

AU1995302

chr10:
56980411-56980411

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

AU3725302

chr10:
57059028-57059028

T

C

intergenic

De novo

-

Yuen2017 G

PCDH15

AU4467302

chr10:
55755694-55755698

CAGAG

CAG

intronic

De novo

-

Yuen2017 G

PCDH15

7-0249-004

chr10:
56403181-56403189

TTAATAATA

TTAATA

intronic

De novo

-

Yuen2017 G

PCDH15

1-0290-003

chr10:
56472646-56472646

A

G

intronic

De novo

-

Yuen2017 G

PCDH15

1-0518-003

chr10:
56194490-56194490

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PCDH15

1-0377-003

chr10:
55856382-55856382

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

AU4336301

chr10:
57196467-57196467

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

2-1180-003

chr10:
57171906-57171906

C

G

intergenic

De novo

-

Yuen2016 G

PCDH15

1-0252-003

chr10:
55769772-55769772

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

1-0138-004

chr10:
55819285-55819285

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

2-1411-003

chr10:
57220629-57220640

CTTGGAAATGGT

C

intergenic

De novo

-

Yuen2016 G

PCDH15

08C76931

chr10:
55617018-55617018

G

A

exonic

De novo

synonymous SNV

NM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763

c.C3510T
c.C3612T
c.C3657T
c.C3657T
c.C3723T
c.C3723T
c.C3723T
c.C3738T

p.S1170S
p.S1204S
p.S1219S
p.S1219S
p.S1241S
p.S1241S
p.S1241S
p.S1246S

-

8.285E-6

Fu2022 E
Satterstrom2020 E

PCDH15

AU3506302

chr10:
56766434-56766434

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

AU011903

chr10:
55652697-55652697

T

G

intronic

De novo

-

Yuen2017 G

PCDH15

2-1107-003

chr10:
56974406-56974406

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PCDH15

AU4215302

chr10:
55928753-55928755

CGT

C

intronic

De novo

-

Yuen2017 G

PCDH15

1-0304-003

chr10:
55874572-55874572

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

2-0210-005

chr10:
56305621-56305621

A

AACTT

intronic

De novo

-

Yuen2017 G

PCDH15

AU072004

chr10:
57341173-57341173

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

3-0436-000

chr10:
57122623-57122623

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PCDH15

1-0484-003

chr10:
55939613-55939613

C

A

intronic

De novo

-

Yuen2017 G

PCDH15

7-0167-003

chr10:
55800336-55800336

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

2-1254-003

chr10:
55627824-55627824

G

T

intronic

De novo

-

Yuen2016 G

PCDH15

1-0304-003

chr10:
55874582-55874582

G

C

intronic

De novo

-

Yuen2017 G

PCDH15

AU2950301

chr10:
56590238-56590238

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

2-1276-003

chr10:
55745934-55745935

AC

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PCDH15

1-0296-003

chr10:
56402665-56402665

C

A

intronic

De novo

-

Yuen2017 G

PCDH15

2-1185-003

chr10:
56623189-56623189

C

A

intergenic

De novo

-

Yuen2017 G

PCDH15

A20

chr10:
57045790-57045790

G

C

intergenic

De novo

-

Wu2018 G

PCDH15

1-0261-004

chr10:
56490938-56490938

A

G

intronic

De novo

-

Yuen2017 G

PCDH15

5-0050-003

chr10:
56596789-56596789

A

G

intergenic

De novo

-

Yuen2017 G

PCDH15

7-0248-003

chr10:
56913815-56913815

G

C

intergenic

De novo

-

Yuen2017 G

PCDH15

AU4032307

chr10:
55944366-55944366

T

G

intronic

De novo

-

Yuen2017 G

PCDH15

2-1333-003

chr10:
56767259-56767259

C

A

intergenic

De novo

-

Yuen2017 G

PCDH15

2-1366-003

chr10:
56549144-56549146

CTA

C

intronic

De novo

-

Yuen2017 G

PCDH15

AU0540301

chr10:
57107705-57107705

A

G

intergenic

De novo

-

Yuen2017 G

PCDH15

AU2123302

chr10:
56806276-56806276

A

G

intergenic

De novo

-

Yuen2017 G

PCDH15

AU2029303

chr10:
56598143-56598143

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

1-0595-005

chr10:
56263688-56263688

C

CAT

intronic

De novo

-

Yuen2017 G

PCDH15

1-0332-003

chr10:
57096422-57096422

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

AU3610302

chr10:
55825257-55825257

A

G

intronic

De novo

-

Yuen2017 G

PCDH15

AU3610302

chr10:
55826315-55826315

C

T

intronic

De novo

-

Yuen2017 G

PCDH15

08C73987

chr10:
55583160-55583160

G

C

intronic

De novo

-

Satterstrom2020 E

PCDH15

2-1731-003

chr10:
56190894-56190894

G

T

intronic

De novo

-

Yuen2017 G

PCDH15

2-0116-004

chr10:
55667127-55667127

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

AU1698301

chr10:
55583734-55583734

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

2-1279-003

chr10:
56375286-56375286

A

G

intronic

De novo

-

Yuen2017 G

PCDH15

AU4410302

chr10:
56979329-56979329

T

C

intergenic

De novo

-

Yuen2017 G

PCDH15

1-0455-004

chr10:
56824190-56824190

T

C

intergenic

De novo

-

Yuen2017 G

PCDH15

1-0868-003

chr10:
56490111-56490111

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

2-0298-003

chr10:
56270763-56270763

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

1-0142-005

chr10:
56972027-56972027

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

2-0143-004

chr10:
55987360-55987360

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

14400_p1

chr10:
55698706-55698706

C

T

exonic

De novo

nonsynonymous SNV

NM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763

c.G3029A
c.G3131A
c.G3176A
c.G3176A
c.G3242A
c.G3242A
c.G3242A
c.G3257A

p.G1010E
p.G1044E
p.G1059E
p.G1059E
p.G1081E
p.G1081E
p.G1081E
p.G1086E

6.738

-

Fu2022 E

PCDH15

1-0674-004

chr10:
56110707-56110707

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

AU4435301

chr10:
56407158-56407158

G

A

intronic

De novo

-

Yuen2017 G

PCDH15

14423.p1

chr10:
55581663-55581663

G

A

exonic

De novo

synonymous SNV

NM_001142767
NM_001142765
NM_001142766
NM_001142773
NM_001142768
NM_033056
NM_001142764
NM_001142763

c.C5703T
c.C5616T
c.C5814T
c.C5754T
c.C5763T
c.C5823T
c.C5829T
c.C5844T

p.V1901V
p.V1872V
p.V1938V
p.V1918V
p.V1921V
p.V1941V
p.V1943V
p.V1948V

-

8.244E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

PCDH15

14400.p1

chr10:
55698706-55698706

C

T

exonic

De novo

nonsynonymous SNV

NM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763

c.G3029A
c.G3131A
c.G3176A
c.G3176A
c.G3242A
c.G3242A
c.G3242A
c.G3257A

p.G1010E
p.G1044E
p.G1059E
p.G1059E
p.G1081E
p.G1081E
p.G1081E
p.G1086E

6.738

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

PCDH15

2-1362-003

chr10:
57051437-57051437

G

GAAAAAGAAC

intergenic

De novo

-

Yuen2017 G

PCDH15

AU1860302

chr10:
56292708-56292708

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

AU3713301

chr10:
56289048-56289048

C

T

intronic

De novo

-

Yuen2017 G

PCDH15

SP0128256

chr10:
55826599-55826599

T

C

exonic

De novo

nonsynonymous SNV

NM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763

c.A1925G
c.A2027G
c.A2072G
c.A2072G
c.A2138G
c.A2138G
c.A2138G
c.A2153G

p.N642S
p.N676S
p.N691S
p.N691S
p.N713S
p.N713S
p.N713S
p.N718S

24.0

-

Fu2022 E

PCDH15

5-0116-003

chr10:
56569113-56569113

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

AU3371305

chr10:
57034561-57034561

A

G

intergenic

De novo

-

Yuen2017 G

PCDH15

2-1239-003

chr10:
56394915-56394921

AGTCTCC

A

intronic

De novo

-

Yuen2016 G

PCDH15

1-0213-004

chr10:
55825061-55825061

T

C

intronic

De novo

-

Yuen2017 G

PCDH15

36177

chr10:
55581663-55581663

G

A

exonic

De novo

synonymous SNV

NM_001142767
NM_001142765
NM_001142766
NM_001142773
NM_001142768
NM_033056
NM_001142764
NM_001142763

c.C5703T
c.C5616T
c.C5814T
c.C5754T
c.C5763T
c.C5823T
c.C5829T
c.C5844T

p.V1901V
p.V1872V
p.V1938V
p.V1918V
p.V1921V
p.V1941V
p.V1943V
p.V1948V

-

8.244E-6

Fu2022 E

PCDH15

AU024004

chr10:
57145895-57145895

A

G

intergenic

De novo

-

Yuen2017 G

PCDH15

AU2089302

chr10:
57179585-57179585

C

T

intergenic

De novo

-

Yuen2017 G

PCDH15

AU4191302

chr10:
56722193-56722193

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

1-0305-004

chr10:
56966776-56966776

T

C

intergenic

De novo

-

Yuen2017 G

PCDH15

2-0002-005

chr10:
56024041-56024041

A

G

intronic

De novo

-

Yuen2017 G

PCDH15

2-1461-003

chr10:
56133319-56133319

T

C

intronic

De novo

-

Yuen2016 G

PCDH15

AU2029302

chr10:
56598143-56598143

G

A

intergenic

De novo

-

Yuen2017 G

PCDH15

Lim2017:36177

chr10:
55581663-55581663

G

A

exonic

De novo

synonymous SNV

NM_001142767
NM_001142765
NM_001142766
NM_001142773
NM_001142768
NM_033056
NM_001142764
NM_001142763

c.C5703T
c.C5616T
c.C5814T
c.C5754T
c.C5763T
c.C5823T
c.C5829T
c.C5844T

p.V1901V
p.V1872V
p.V1938V
p.V1918V
p.V1921V
p.V1941V
p.V1943V
p.V1948V

-

8.244E-6

Lim2017 E

PCDH15

2-1155-003

chr10:
56976565-56976565

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PCDH15

1-0321-004

chr10:
57248380-57248380

A

AT

intergenic

De novo

-

Yuen2017 G

PCDH15

2-0242-003

chr10:
55960271-55960271

G

A

intronic

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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