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Results for "PC"

Variant Events: 20

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
PC     Li2017:20294chr11:
66616775-66616775
CTexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.G3214A
c.G3214A
c.G3214A
p.G1072S
p.G1072S
p.G1072S
28.08.314E-6Li2017 T
Li2017 T
PC     A10chr11:
66639184-66639184
TCexonicDe novononsynonymous SNVNM_022172
NM_000920
NM_001040716
c.A295G
c.A295G
c.A295G
p.I99V
p.I99V
p.I99V
16.75-Wu2018 G
PC     Li2017:17505chr11:
66633666-66633666
GAexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.C1177T
c.C1177T
c.C1177T
p.R393C
p.R393C
p.R393C
20.61.695E-5Li2017 T
Li2017 T
PC     Li2017:18415chr11:
66636429-66636429
ATexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.T910A
c.T910A
c.T910A
p.Y304N
p.Y304N
p.Y304N
24.7-Li2017 T
Li2017 T
PC     7-0100-003chr11:
66713387-66713387
CTintronicDe novo--Yuen2017 G
PC     1-0571-003chr11:
66736596-66736596
CTintergenicDe novo--Yuen2017 G
PC     1-0043-003chr11:
66713387-66713387
CTintronicDe novo--Yuen2017 G
PC     Li2017:36chr11:
66638594-66638594
CTexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.G562A
c.G562A
c.G562A
p.G188S
p.G188S
p.G188S
36.01.654E-5Li2017 T
PC     Li2017:19675chr11:
66618561-66618561
CAexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.G2173T
c.G2173T
c.G2173T
p.G725C
p.G725C
p.G725C
22.9-Li2017 T
PC     SSC04583chr11:
66617104-66617104
GCexonicDe novononsynonymous SNVNM_022172
NM_000920
NM_001040716
c.C3125G
c.C3125G
c.C3125G
p.P1042R
p.P1042R
p.P1042R
16.69-Lim2017 E
PC     12388.p1chr11:
66617104-66617104
GCexonicDe novononsynonymous SNVNM_022172
NM_000920
NM_001040716
c.C3125G
c.C3125G
c.C3125G
p.P1042R
p.P1042R
p.P1042R
16.69-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PC     1-0045-004chr11:
66713373-66713373
ATintronicDe novo--Yuen2017 G
PC     Li2017:20619chr11:
66617510-66617510
TAexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.A2796T
c.A2796T
c.A2796T
p.E932D
p.E932D
p.E932D
11.84-Li2017 T
PC     Li2017:16280chr11:
66639170-66639170
GCexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.C309G
c.C309G
c.C309G
p.I103M
p.I103M
p.I103M
18.67-Li2017 T
Li2017 T
PC     2-0197-004chr11:
66669033-66669033
CTintronicDe novo--Yuen2017 G
PC     AU3692302chr11:
66694751-66694751
GAintronicDe novo--Yuen2017 G
PC     A29chr11:
66638594-66638594
CTexonicDe novononsynonymous SNVNM_022172
NM_000920
NM_001040716
c.G562A
c.G562A
c.G562A
p.G188S
p.G188S
p.G188S
36.01.654E-5Wu2018 G
PC     2-1409-003chr11:
66681547-66681547
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PC     AU4392302chr11:
66669307-66669307
GAintronicDe novo--Yuen2017 G
PC     iHART3177chr11:
66616496-66616498
CAGCexonicPaternalframeshift deletionNM_022172
NM_000920
NM_001040716
c.3409_3410del
c.3409_3410del
c.3409_3410del
p.L1137fs
p.L1137fs
p.L1137fs
--Ruzzo2019 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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