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Results for "ARPP21"

Variant Events: 65

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
ARPP21     AU4072303chr3:
36032428-36032428
ACintergenicDe novo--Yuen2017 G
ARPP21     1-0006-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     2-1485-004chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     2-1322-004chr3:
36210599-36210601
AGTAintergenicDe novo--Yuen2017 G
ARPP21     2-0273-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     SP0057007chr3:
35726708-35726708
AGUTR3De novo--Fu2022 E
Trost2022 G
ARPP21     SP0034314chr3:
35748526-35748526
GAexonicDe novosynonymous SNVNM_001267619
NM_001267617
NM_016300
c.G747A
c.G747A
c.G747A
p.R249R
p.R249R
p.R249R
--Fu2022 E
Trost2022 G
ARPP21     2-1348-003chr3:
35926778-35926778
AGintergenicDe novo--Yuen2017 G
ARPP21     AU4079301chr3:
35828548-35828548
ATintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     2-0320-003chr3:
36020527-36020527
TGintergenicDe novo--Yuen2017 G
ARPP21     2-1715-004chr3:
35758737-35758737
GAintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     2-0198-005chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     AU2139305chr3:
35804360-35804360
GAintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     AU3918302chr3:
35706045-35706045
TCintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     SP0111605chr3:
35727068-35727068
GAUTR3De novo--Fu2022 E
Trost2022 G
ARPP21     AU4197301chr3:
36210198-36210198
CTintergenicDe novo--Yuen2017 G
ARPP21     A24chr3:
36050690-36050690
TAintergenicDe novo--Wu2018 G
ARPP21     AU3302302chr3:
35769934-35769934
TAintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     AU4465303chr3:
35981372-35981372
CTintergenicDe novo--Yuen2017 G
ARPP21     7-0067-003chr3:
36359311-36359311
CTintergenicDe novo--Yuen2017 G
ARPP21     1-0458-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     5-1003-003chr3:
35786683-35786683
TAintronicDe novo--Trost2022 G
ARPP21     4-0062-003chr3:
35815740-35815740
TAintronicDe novo--Trost2022 G
ARPP21     7-0324-003chr3:
35759254-35759254
TCintronicDe novo--Trost2022 G
ARPP21     2-1724-003chr3:
35784865-35784865
CTintronicDe novo--Trost2022 G
ARPP21     3-0485-000Achr3:
35686641-35686642
TATintronicDe novo--Trost2022 G
ARPP21     2-1549-003chr3:
36290322-36290341
TTTATTATTATTATTATTATTTTATTATTATTATTATintergenicDe novo--Yuen2017 G
ARPP21     5-0131-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     2-0198-004chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     7-0119-003chr3:
35881295-35881295
AGintergenicDe novo--Yuen2017 G
ARPP21     3-0402-000chr3:
35816016-35816016
AGintronicDe novo--Trost2022 G
ARPP21     1-0565-004chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     2-1485-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     SMHC00858s000chr3:
35758849-35758849
GAexonicDe novononsynonymous SNVNM_001267619
NM_016300
c.G893A
c.G995A
p.R298Q
p.R332Q
26.03.307E-5Yuan2023 E
ARPP21     Wang2023:858chr3:
35758849-35758849
GAexonicDe novononsynonymous SNVNM_001267619
NM_016300
c.G893A
c.G995A
p.R298Q
p.R332Q
26.03.307E-5Wang2023 E
ARPP21     AU053503chr3:
36171656-36171656
ACintergenicDe novo--Yuen2017 G
ARPP21     2-1416-004chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     2-1357-004chr3:
36349820-36349820
TAintergenicDe novo--Yuen2017 G
ARPP21     11944.p1chr3:
35731625-35731628
GACAGexonicDe novononframeshift deletionNM_001267619
NM_001267617
NM_016300
c.539_541del
c.539_541del
c.539_541del
p.180_181del
p.180_181del
p.180_181del
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ARPP21     2-0198-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     13543.p1chr3:
35768084-35768084
TCintronicDe novo--Turner2016 G
ARPP21     AU2129303chr3:
35681639-35681639
TCUTR5De novo--Yuen2017 G
ARPP21     AU046703chr3:
35799040-35799040
AGintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     13298.p1chr3:
36137225-36137225
CTintergenicDe novo--Turner2016 G
ARPP21     AU3889305chr3:
36008125-36008125
TCintergenicDe novo--Yuen2017 G
ARPP21     CC982_201chr3:
35732492-35732492
CTexonicDe novosynonymous SNVNM_001267619
NM_001267617
NM_016300
c.C681T
c.C681T
c.C681T
p.T227T
p.T227T
p.T227T
6.2-Fu2022 E
ARPP21     AU3765302chr3:
35715574-35715574
CGintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     1-0201-005chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     AU4092302chr3:
36151017-36151017
GAintergenicDe novo--Yuen2017 G
ARPP21     SSC04165chr3:
35731625-35731628
GACAGexonicDe novononframeshift deletionNM_001267619
NM_001267617
NM_016300
c.539_541del
c.539_541del
c.539_541del
p.180_181del
p.180_181del
p.180_181del
--Fu2022 E
Trost2022 G
ARPP21     1-0565-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     7-0097-003chr3:
36284137-36284137
GAintergenicDe novo--Yuen2017 G
ARPP21     3-0434-000chr3:
35865863-35865863
CTintergenicDe novo--Yuen2017 G
ARPP21     1-0007-003chr3:
35724254-35724257
CTTTCTintronicDe novo--Yuen2017 G
ARPP21     2-1693-003chr3:
36175944-36175957
TTTTTTTGTTTTTTTTTTTTTintergenicDe novo--Yuen2017 G
ARPP21     1-0651-003chr3:
35732104-35732104
CTintronicDe novo--Trost2022 G
Yuen2017 G
ARPP21     1-0339-004chr3:
35992155-35992155
ACintergenicDe novo--Yuen2017 G
ARPP21     2-1466-003chr3:
36333949-36333949
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
ARPP21     AU3777302chr3:
36222384-36222384
AGintergenicDe novo--Yuen2017 G
ARPP21     AU4462302chr3:
36136865-36136865
CTintergenicDe novo--Yuen2017 G
ARPP21     1-0591-003chr3:
36121478-36121478
CTintergenicDe novo--Yuen2017 G
ARPP21     2-1277-003chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
ARPP21     AU1404301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ARPP21     CC982.201chr3:
35732492-35732492
CTexonicDe novosynonymous SNVNM_001267619
NM_001267617
NM_016300
c.C681T
c.C681T
c.C681T
p.T227T
p.T227T
p.T227T
6.2-Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ARPP21     1-0201-004chr3:
36317197-36317197
AACTCGGCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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