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Results for "PCLO"

Variant Events: 62

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
PCLO     3-0393-000chr7:
82584377-82584377
CTexonicDe novosynonymous SNVNM_014510
NM_033026
c.G5892A
c.G5892A
p.T1964T
p.T1964T
-4.151E-5Tammimies2015 E
PCLO     1-0402-004chr7:
82737028-82737028
TTGGCCintronicDe novo--Yuen2017 G
PCLO     AU3702307chr7:
82423390-82423390
TCintronicDe novo--Yuen2017 G
PCLO     PN400504chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     2-0070-003chr7:
82430599-82430599
CTintronicDe novo--Yuen2017 G
PCLO     PN400587chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     1-0412-003chr7:
82838121-82838121
ACintergenicDe novo--Yuen2017 G
PCLO     AU4159301chr7:
82795386-82795386
GTintergenicDe novo--Yuen2017 G
PCLO     PN400393chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     7-0102-003chr7:
82526914-82526914
TCintronicDe novo--Yuen2017 G
PCLO     SP0081088chr7:
82508599-82508599
GTintronicDe novo--Fu2022 E
PCLO     SP0042412chr7:
82545804-82545804
TGexonicDe novononsynonymous SNVNM_014510
NM_033026
c.A11498C
c.A11498C
p.Y3833S
p.Y3833S
16.92-Fu2022 E
PCLO     SP0062234chr7:
82784423-82784423
GAexonicDe novostopgainNM_014510
NM_033026
c.C1534T
c.C1534T
p.Q512X
p.Q512X
38.0-Fu2022 E
PCLO     SP0032696chr7:
82538248-82538248
CTexonicDe novononsynonymous SNVNM_014510
NM_033026
c.G13382A
c.G13382A
p.R4461Q
p.R4461Q
16.438.313E-6Fu2022 E
PCLO     SP0102620chr7:
82545390-82545390
TAexonicDe novononsynonymous SNVNM_014510
NM_033026
c.A11912T
c.A11912T
p.E3971V
p.E3971V
17.97-Fu2022 E
PCLO     2-1272-003chr7:
82771808-82771808
TAintronicDe novo--Yuen2016 G
PCLO     2-1729-003chr7:
82853508-82853508
CTintergenicDe novo--Yuen2017 G
PCLO     72-0745chr7:
82763882-82763882
GAexonicInheritednonsynonymous SNVNM_014510
NM_033026
c.C2984T
c.C2984T
p.P995L
p.P995L
5.713-Patowary2019 E
PCLO     1-0368-004chr7:
82727956-82727956
TCintronicDe novo--Yuen2017 G
PCLO     PN400125chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     1-0395-003chr7:
82430143-82430143
TCintronicDe novo--Yuen2017 G
PCLO     AU2139301chr7:
82408973-82408973
GTintronicDe novo--Yuen2017 G
PCLO     2-1364-003chr7:
82658995-82658995
TCintronicDe novo--Yuen2017 G
PCLO     AU4215302chr7:
82906018-82906018
TGintergenicDe novo--Yuen2017 G
PCLO     80001101063chr7:
82579998-82579998
CTexonicDe novosynonymous SNVNM_014510
NM_033026
c.G9906A
c.G9906A
p.Q3302Q
p.Q3302Q
-8.282E-6Fu2022 E
Satterstrom2020 E
PCLO     1-0567-003chr7:
82429943-82429943
CGintronicDe novo--Yuen2017 G
PCLO     2-1440-003chr7:
82489958-82489958
TCintronicDe novo--Yuen2017 G
PCLO     12449.p1chr7:
82887288-82887288
TCintergenicDe novo--Turner2016 G
PCLO     AU4246304chr7:
82525931-82525931
CTintronicDe novo--Yuen2017 G
PCLO     A26chr7:
82911990-82911990
TTTGintergenicDe novo--Wu2018 G
PCLO     PN400590chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     2-0286-004chr7:
82937926-82937926
CTintergenicDe novo--Yuen2017 G
PCLO     2-1089-003chr7:
82914766-82914766
ATintergenicDe novo--Yuen2017 G
PCLO     PN400240chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     PN400157chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     PN400386chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     PN400396chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     PN400127chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     PN400178chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     2-1429-003chr7:
82542330-82542330
ATintronicDe novo--Yuen2017 G
PCLO     1-0010-003chr7:
82429943-82429943
CGintronicDe novo--Yuen2017 G
PCLO     08C72695chr7:
82544917-82544917
TCexonicDe novononsynonymous SNVNM_014510
NM_033026
c.A12385G
c.A12385G
p.K4129E
p.K4129E
18.36-Fu2022 E
Satterstrom2020 E
PCLO     5-0015-004chr7:
82836603-82836603
CTintergenicDe novo--Yuen2017 G
PCLO     AU1742302chr7:
82639900-82639905
AATTATAATintronicDe novo--Yuen2017 G
PCLO     AU4237304chr7:
82691548-82691548
GTintronicDe novo--Yuen2017 G
PCLO     PN400363chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     GM182936chr7:
82583913-82583913
GCexonicDe novononsynonymous SNVNM_014510
NM_033026
c.C6356G
c.C6356G
p.S2119W
p.S2119W
10.168.298E-6Fu2022 E
PCLO     1-0366-003chr7:
82532022-82532022
GTexonicDe novosynonymous SNVNM_014510
NM_033026
c.C13473A
c.C13473A
p.I4491I
p.I4491I
--Yuen2015 G
PCLO     PN400507chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     JASD_Fam0158chr7:
82544191-82544191
TCexonicDe novononsynonymous SNVNM_014510
NM_033026
c.A13111G
c.A13111G
p.M4371V
p.M4371V
8.8078.314E-6Takata2018 E
PCLO     PN400241chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     2-0278-003chr7:
82825330-82825330
TCintergenicDe novo--Yuen2017 G
PCLO     AU3692301chr7:
82901907-82901907
GAintergenicDe novo--Yuen2017 G
PCLO     2-1261-003chr7:
82552100-82552103
GTTCGintronicDe novo--Yuen2017 G
PCLO     2-0242-003chr7:
82960839-82960839
GTintergenicDe novo--Yuen2017 G
PCLO     ASP045chr7:
82544191-82544191
TCexonicDe novononsynonymous SNVNM_014510
NM_033026
c.A13111G
c.A13111G
p.M4371V
p.M4371V
8.8078.314E-6Fu2022 E
Satterstrom2020 E
PCLO     PN400231chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     5-0065-003chr7:
82430109-82430109
GAintronicDe novo--Yuen2017 G
PCLO     AU1635302chr7:
82664812-82664812
ACintronicDe novo--Yuen2017 G
PCLO     PN400490chr7:
82543843-82543845
CATCintronicUnknown-3.0E-4Leblond2019 E
PCLO     7-0106-003chr7:
82872794-82872795
CTCintergenicDe novo--Yuen2017 G
PCLO     AU4152303chr7:
82424202-82424202
TCintronicDe 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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