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Results for "PAPOLG"
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
PAPOLG
SP0007972
chr2:
61021255-61021255
A
G
exonic
De novo
nonsynonymous SNV
NM_022894
c.A1918G
p.T640A
15.61
-
Fu2022
E
PAPOLG
13630.p1
chr2:
60988862-60988863
AT
A
intronic
De novo
-
0.0028
Krumm2015
E
PAPOLG
iHART1807
chr2:
61021851-61021851
C
T
exonic
Paternal
stopgain
NM_022894
c.C1996T
p.R666X
40.0
1.657E-5
Ruzzo2019
G
PAPOLG
SP0042970
chr2:
61014789-61014789
A
C
intronic
De novo
-
-
Fu2022
E
PAPOLG
2-1485-003
chr2:
61009060-61009060
C
T
exonic
De novo
nonsynonymous SNV
NM_022894
c.C947T
p.T316I
32.0
8.238E-6
Yuen2017
G
PAPOLG
AU166A
chr2:
61014164-61014164
C
A
exonic
De novo
nonsynonymous SNV
NM_022894
c.C1249A
p.P417T
27.4
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
PAPOLG
08C74187
chr2:
61006893-61006893
T
G
exonic
De novo
nonsynonymous SNV
NM_022894
c.T816G
p.F272L
22.5
8.24E-6
Fu2022
E
Satterstrom2020
E
PAPOLG
2-1485-004
chr2:
61009060-61009060
C
T
exonic
De novo
nonsynonymous SNV
NM_022894
c.C947T
p.T316I
32.0
8.238E-6
Yuen2017
G
PAPOLG
AU069603
chr2:
61004269-61004269
G
A
intronic
De novo
-
-
Yuen2017
G
PAPOLG
SP0097368
chr2:
61014667-61014667
G
T
exonic
De novo
nonsynonymous SNV
NM_022894
c.G1308T
p.W436C
22.4
-
Antaki2022
G
E
Fu2022
E
PAPOLG
2-1633-003
chr2:
61000154-61000154
G
A
intronic
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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