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Results for "PCDH15"

Variant Events: 88

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.s1chr10:
55583161-55583161
TGintronicDe novo--An2014 E
PCDH15     11002.p1chr10:
56104524-56104524
TCintronicDe novo--Turner2016 G
PCDH15     1-0051-005chr10:
55723657-55723657
GAintronicDe novo--Yuen2017 G
PCDH15     14153.p1chr10:
56436850-56436850
GAintronicDe novo--Turner2016 G
PCDH15     11194.p1chr10:
55891225-55891225
AGintronicDe novo--Turner2016 G
PCDH15     1-0604-003chr10:
56822539-56822539
CAintergenicDe novo--Yuen2017 G
PCDH15     A3chr10:
57278582-57278582
GAintergenicDe novo--Wu2018 G
PCDH15     AU4235303chr10:
57153562-57153562
CGintergenicDe novo--Yuen2017 G
PCDH15     11002.p1chr10:
56501337-56501337
AGintronicDe novo--Turner2016 G
PCDH15     2-1702-003chr10:
56896150-56896150
CTintergenicDe novo--Yuen2017 G
PCDH15     1-0906-003chr10:
56398120-56398120
CAintronicDe novo--Yuen2017 G
PCDH15     AU3398301chr10:
55978157-55978157
CGintronicDe novo--Yuen2017 G
PCDH15     AU1995302chr10:
56980411-56980411
GAintergenicDe novo--Yuen2017 G
PCDH15     AU3725302chr10:
57059028-57059028
TCintergenicDe novo--Yuen2017 G
PCDH15     AU4467302chr10:
55755694-55755698
CAGAGCAGintronicDe novo--Yuen2017 G
PCDH15     7-0249-004chr10:
56403181-56403189
TTAATAATATTAATAintronicDe novo--Yuen2017 G
PCDH15     1-0290-003chr10:
56472646-56472646
AGintronicDe novo--Yuen2017 G
PCDH15     1-0518-003chr10:
56194490-56194490
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PCDH15     1-0377-003chr10:
55856382-55856382
GAintronicDe novo--Yuen2017 G
PCDH15     AU4336301chr10:
57196467-57196467
GAintergenicDe novo--Yuen2017 G
PCDH15     2-1180-003chr10:
57171906-57171906
CGintergenicDe novo--Yuen2016 G
PCDH15     1-0252-003chr10:
55769772-55769772
TCintronicDe novo--Yuen2017 G
PCDH15     1-0138-004chr10:
55819285-55819285
TCintronicDe novo--Yuen2017 G
PCDH15     2-1411-003chr10:
57220629-57220640
CTTGGAAATGGTCintergenicDe novo--Yuen2016 G
PCDH15     08C76931chr10:
55617018-55617018
GAexonicDe novosynonymous SNVNM_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-6Satterstrom2020 E
PCDH15     AU3506302chr10:
56766434-56766434
CTintergenicDe novo--Yuen2017 G
PCDH15     AU011903chr10:
55652697-55652697
TGintronicDe novo--Yuen2017 G
PCDH15     2-1107-003chr10:
56974406-56974406
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
PCDH15     AU4215302chr10:
55928753-55928755
CGTCintronicDe novo--Yuen2017 G
PCDH15     1-0304-003chr10:
55874572-55874572
GAintronicDe novo--Yuen2017 G
PCDH15     2-0210-005chr10:
56305621-56305621
AAACTTintronicDe novo--Yuen2017 G
PCDH15     AU072004chr10:
57341173-57341173
CTintergenicDe novo--Yuen2017 G
PCDH15     3-0436-000chr10:
57122623-57122623
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
PCDH15     1-0484-003chr10:
55939613-55939613
CAintronicDe novo--Yuen2017 G
PCDH15     7-0167-003chr10:
55800336-55800336
GAintronicDe novo--Yuen2017 G
PCDH15     2-1254-003chr10:
55627824-55627824
GTintronicDe novo--Yuen2016 G
PCDH15     1-0304-003chr10:
55874582-55874582
GCintronicDe novo--Yuen2017 G
PCDH15     AU2950301chr10:
56590238-56590238
GAintergenicDe novo--Yuen2017 G
PCDH15     2-1276-003chr10:
55745934-55745935
ACAintronicDe novo--Yuen2016 G
Yuen2017 G
PCDH15     1-0296-003chr10:
56402665-56402665
CAintronicDe novo--Yuen2017 G
PCDH15     2-1185-003chr10:
56623189-56623189
CAintergenicDe novo--Yuen2017 G
PCDH15     A20chr10:
57045790-57045790
GCintergenicDe novo--Wu2018 G
PCDH15     1-0261-004chr10:
56490938-56490938
AGintronicDe novo--Yuen2017 G
PCDH15     5-0050-003chr10:
56596789-56596789
AGintergenicDe novo--Yuen2017 G
PCDH15     7-0248-003chr10:
56913815-56913815
GCintergenicDe novo--Yuen2017 G
PCDH15     AU4032307chr10:
55944366-55944366
TGintronicDe novo--Yuen2017 G
PCDH15     2-1333-003chr10:
56767259-56767259
CAintergenicDe novo--Yuen2017 G
PCDH15     2-1366-003chr10:
56549144-56549146
CTACintronicDe novo--Yuen2017 G
PCDH15     AU0540301chr10:
57107705-57107705
AGintergenicDe novo--Yuen2017 G
PCDH15     AU2123302chr10:
56806276-56806276
AGintergenicDe novo--Yuen2017 G
PCDH15     AU2029303chr10:
56598143-56598143
GAintergenicDe novo--Yuen2017 G
PCDH15     1-0595-005chr10:
56263688-56263688
CCATintronicDe novo--Yuen2017 G
PCDH15     1-0332-003chr10:
57096422-57096422
GAintergenicDe novo--Yuen2017 G
PCDH15     AU3610302chr10:
55825257-55825257
AGintronicDe novo--Yuen2017 G
PCDH15     AU3610302chr10:
55826315-55826315
CTintronicDe novo--Yuen2017 G
PCDH15     08C73987chr10:
55583160-55583160
GCintronicDe novo--Satterstrom2020 E
PCDH15     2-1731-003chr10:
56190894-56190894
GTintronicDe novo--Yuen2017 G
PCDH15     2-0116-004chr10:
55667127-55667127
TCintronicDe novo--Yuen2017 G
PCDH15     AU1698301chr10:
55583734-55583734
TCintronicDe novo--Yuen2017 G
PCDH15     2-1279-003chr10:
56375286-56375286
AGintronicDe novo--Yuen2017 G
PCDH15     AU4410302chr10:
56979329-56979329
TCintergenicDe novo--Yuen2017 G
PCDH15     1-0455-004chr10:
56824190-56824190
TCintergenicDe novo--Yuen2017 G
PCDH15     1-0868-003chr10:
56490111-56490111
GAintronicDe novo--Yuen2017 G
PCDH15     2-0298-003chr10:
56270763-56270763
GAintronicDe novo--Yuen2017 G
PCDH15     1-0142-005chr10:
56972027-56972027
CTintergenicDe novo--Yuen2017 G
PCDH15     2-0143-004chr10:
55987360-55987360
GAintronicDe novo--Yuen2017 G
PCDH15     1-0674-004chr10:
56110707-56110707
TCintronicDe novo--Yuen2017 G
PCDH15     AU4435301chr10:
56407158-56407158
GAintronicDe novo--Yuen2017 G
PCDH15     14423.p1chr10:
55581663-55581663
GAexonicDe novosynonymous SNVNM_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-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
PCDH15     14400.p1chr10:
55698706-55698706
CTexonicDe novononsynonymous SNVNM_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     2-1362-003chr10:
57051437-57051437
GGAAAAAGAACintergenicDe novo--Yuen2017 G
PCDH15     AU1860302chr10:
56292708-56292708
TCintronicDe novo--Yuen2017 G
PCDH15     AU3713301chr10:
56289048-56289048
CTintronicDe novo--Yuen2017 G
PCDH15     5-0116-003chr10:
56569113-56569113
CTintergenicDe novo--Yuen2017 G
PCDH15     AU3371305chr10:
57034561-57034561
AGintergenicDe novo--Yuen2017 G
PCDH15     2-1239-003chr10:
56394915-56394921
AGTCTCCAintronicDe novo--Yuen2016 G
PCDH15     1-0213-004chr10:
55825061-55825061
TCintronicDe novo--Yuen2017 G
PCDH15     AU024004chr10:
57145895-57145895
AGintergenicDe novo--Yuen2017 G
PCDH15     AU2089302chr10:
57179585-57179585
CTintergenicDe novo--Yuen2017 G
PCDH15     AU4191302chr10:
56722193-56722193
GAintergenicDe novo--Yuen2017 G
PCDH15     1-0305-004chr10:
56966776-56966776
TCintergenicDe novo--Yuen2017 G
PCDH15     2-0002-005chr10:
56024041-56024041
AGintronicDe novo--Yuen2017 G
PCDH15     2-1461-003chr10:
56133319-56133319
TCintronicDe novo--Yuen2016 G
PCDH15     AU2029302chr10:
56598143-56598143
GAintergenicDe novo--Yuen2017 G
PCDH15     Lim2017:36177chr10:
55581663-55581663
GAexonicDe novosynonymous SNVNM_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-6Lim2017 E
PCDH15     2-1155-003chr10:
56976565-56976565
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PCDH15     1-0321-004chr10:
57248380-57248380
AATintergenicDe novo--Yuen2017 G
PCDH15     2-0242-003chr10:
55960271-55960271
GAintronicDe 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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