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Results for "PDE10A"
Variant Events: 71
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
PDE10A
AU4079302
chr6:
166019969-166019969
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
5-0074-003
chr6:
166160695-166160695
T
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0835-003
chr6:
166068276-166068276
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
80001101764
chr6:
165846598-165846598
C
T
exonic
De novo
nonsynonymous SNV
NM_001130690
NM_006661
c.G557A
c.G527A
p.G186D
p.G176D
23.3
8.258E-6
Fu2022
E
PDE10A
1-0161-003
chr6:
166091477-166091477
A
AT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0683-004
chr6:
165916680-165916680
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
2-1275-003
chr6:
166091477-166091477
A
AT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0252-003
chr6:
166162981-166162981
T
TGAC
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0282-003
chr6:
166091751-166091751
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0059-003
chr6:
165779518-165779518
A
T
intronic
De novo
-
-
Yuen2017
G
PDE10A
7-0191-003
chr6:
166091478-166091478
C
T
intergenic
De novo
-
-
Yuen2017
G
PDE10A
2-1337-003
chr6:
166282161-166282161
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
PDE10A
7-0058-003
chr6:
166253304-166253304
C
CAT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
14153.p1
chr6:
165977877-165977877
G
A
intronic
De novo
-
-
Turner2016
G
PDE10A
2-1502-003
chr6:
166281966-166281966
A
G
intergenic
De novo
-
-
Yuen2017
G
PDE10A
SP0030253
chr6:
165956851-165956851
A
T
intronic
De novo
-
-
Fu2022
E
PDE10A
1-1124-003
chr6:
165754897-165754897
T
C
intronic
De novo
-
-
Trost2022
G
PDE10A
SP0032231
chr6:
165832278-165832278
G
A
intronic
De novo
-
-
Fu2022
E
PDE10A
3-0515-001
chr6:
165773447-165773447
G
A
intronic
De novo
-
-
Trost2022
G
PDE10A
MT_195.3
chr6:
165740184-165740184
T
C
downstream
De novo
-
-
Trost2022
G
PDE10A
AU3302302
chr6:
166030907-166030907
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
MSSNG00046-003
chr6:
165847368-165847368
G
A
intronic
De novo
-
-
Trost2022
G
PDE10A
MSSNG00046-003
chr6:
165849959-165849959
G
A
intronic
De novo
-
-
Trost2022
G
PDE10A
AU059003
chr6:
165808434-165808434
T
G
intronic
De novo
-
-
Trost2022
G
PDE10A
AU2310301
chr6:
165826909-165826909
A
G
intronic
De novo
-
-
Trost2022
G
PDE10A
AU046506
chr6:
165789954-165789954
G
A
intronic
De novo
-
-
Trost2022
G
PDE10A
1-0206-005
chr6:
166091751-166091751
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
AU2687301
chr6:
165796685-165796685
C
A
intronic
De novo
-
-
Trost2022
G
PDE10A
1-0059-003A
chr6:
165779518-165779518
A
T
intronic
De novo
-
-
Trost2022
G
PDE10A
1-0469-003
chr6:
166037192-166037192
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
AU2320301
chr6:
165788470-165788470
A
C
intronic
De novo
-
-
Trost2022
G
PDE10A
2-1644-003
chr6:
165905058-165905058
T
C
intronic
De novo
-
-
Trost2022
G
PDE10A
3-0777-000
chr6:
165907124-165907124
A
T
intronic
De novo
-
-
Trost2022
G
PDE10A
2-0197-004
chr6:
165902387-165902388
GC
CA
intronic
De novo
-
-
Trost2022
G
PDE10A
2-0110-003
chr6:
166090639-166090639
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
PDE10A
2-1686-003
chr6:
165905058-165905058
T
C
intronic
De novo
-
-
Trost2022
G
PDE10A
MSSNG00258-004
chr6:
165899901-165899902
AG
A
intronic
De novo
-
-
Trost2022
G
PDE10A
2-1355-003
chr6:
166074473-166074473
C
T
intronic
De novo
-
-
Yuen2017
G
PDE10A
2-1169-004
chr6:
165902387-165902388
GC
CA
intronic
De novo
-
-
Trost2022
G
PDE10A
MSSNG00042-004
chr6:
165851123-165851124
TA
T
intronic
De novo
-
-
Trost2022
G
PDE10A
AU004403
chr6:
165878896-165878896
A
G
intronic
De novo
-
-
Trost2022
G
PDE10A
2-1170-003
chr6:
165976585-165976594
ATTTCAGTAC
A
intronic
De novo
-
-
Yuen2017
G
PDE10A
1-0375-003
chr6:
166300384-166300385
GT
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
PDE10A
MSSNG00212-003
chr6:
166016526-166016529
TAAG
T
intronic
De novo
-
-
Trost2022
G
PDE10A
2-0149-004
chr6:
166114731-166114731
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-1045-003
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
PDE10A
1-0514-003
chr6:
165915121-165915121
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
PDE10A
1-0018-003
chr6:
165942009-165942009
T
C
intronic
De novo
-
-
Trost2022
G
PDE10A
7-0247-003
chr6:
165884587-165884587
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
1027
chr6:
165963789-165963789
G
A
intronic
De novo
-
-
Trost2022
G
PDE10A
2-0019-004
chr6:
166091551-166091551
A
ATGTCTG
intergenic
De novo
-
-
Yuen2017
G
PDE10A
2-1809-003
chr6:
165928436-165928436
C
T
intronic
De novo
-
-
Trost2022
G
PDE10A
1-1038-003
chr6:
165941096-165941096
C
T
intronic
De novo
-
-
Trost2022
G
PDE10A
1-0652-004
chr6:
165911759-165911759
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
AU4007302
chr6:
165814773-165814773
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
AU3861303
chr6:
166306819-166306819
A
T
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0099-003
chr6:
166116492-166116492
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
5-0071-003
chr6:
166091407-166091407
T
TGTGTGTCTCTG
intergenic
De novo
-
-
Yuen2017
G
PDE10A
5-0129-003
chr6:
166067413-166067413
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
1-0303-003
chr6:
166091433-166091433
C
CCT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0473-003
chr6:
166162898-166162898
T
TCATCAA
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0901-003
chr6:
166091741-166091741
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
14099.p1
chr6:
165845006-165845006
G
GTA
intronic
De novo
-
6.239E-5
Krumm2015
E
PDE10A
2-1252-003
chr6:
166091433-166091433
C
CCT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0051-004
chr6:
166091549-166091549
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
AU031404
chr6:
166283868-166283868
C
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
7-0127-003
chr6:
166091433-166091433
C
CCT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
1-0269-003
chr6:
166274038-166274038
G
A
intergenic
De novo
-
-
Yuen2017
G
PDE10A
2-0307-003
chr6:
165954405-165954405
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PDE10A
2-0272-003
chr6:
166091477-166091477
A
AT
intergenic
De novo
-
-
Yuen2017
G
PDE10A
2-1093-009
chr6:
165745414-165745414
C
G
UTR3
De novo
-
-
Trost2022
G
Yuen2017
G
Source Variant Information
?
, -
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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