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Results for "PGC"
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
PGC
SP0044997
chr6:
41712284-41712284
G
A
intronic
De novo
-
-
Trost2022
G
PGC
1044
chr6:
41715335-41715335
G
A
upstream
De novo
-
-
Trost2022
G
PGC
SP0069486
chr6:
41712109-41712109
C
T
intronic
De novo
-
-
Fu2022
E
PGC
2-0018-003
chr6:
41710226-41710226
A
G
exonic
De novo
nonsynonymous SNV
NM_001166424
NM_002630
c.T449C
c.T449C
p.V150A
p.V150A
15.94
-
Yuen2015
G
Zhou2022
G
E
PGC
2-0007-003
chr6:
41717093-41717093
C
T
intergenic
De novo
-
-
Yuen2017
G
PGC
SSC09156
chr6:
41710065-41710065
C
T
exonic
De novo
nonsynonymous SNV
NM_001166424
NM_002630
c.G610A
c.G610A
p.A204T
p.A204T
4.637
3.322E-5
Fu2022
E
Trost2022
G
PGC
13880.p1
chr6:
41710065-41710065
C
T
exonic
De novo
nonsynonymous SNV
NM_001166424
NM_002630
c.G610A
c.G610A
p.A204T
p.A204T
4.637
3.322E-5
Krumm2015
E
Satterstrom2020
E
Zhou2022
G
E
PGC
mAGRE5378
chr6:
41708228-41708228
C
T
splicing
Paternal
splicing
12.43
8.414E-6
Cirnigliaro2023
G
PGC
mAGRE5377
chr6:
41708228-41708228
C
T
splicing
Paternal
splicing
12.43
8.414E-6
Cirnigliaro2023
G
PGC
SP0028639
chr6:
41708646-41708646
T
A
UTR3
De novo
-
-
Fu2022
E
Trost2022
G
PGC
AU4215302
chr6:
41723639-41723639
A
C
intergenic
De 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 notes
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