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Results for "ARID2"

Variant Events: 27

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
ARID2     2-1306-004chr12:
46177113-46177118
TATATCTintronicDe novo--Yuen2017 G
ARID2     2-0296-004chr12:
46163990-46163990
CTintronicDe novo--Yuen2017 G
ARID2     SF0016143.p1chr12:
46285676-46285676
GAexonicDe novononsynonymous SNVNM_152641c.G5036Ap.R1679Q34.08.237E-6Wang2020 T
ARID2     12910.p1chr12:
46230691-46230691
CTexonicMosaic, De novononsynonymous SNVNM_152641c.C940Tp.R314C27.1-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
ARID2     2-1379-003chr12:
46233500-46233500
TAintronicDe novo--Yuen2016 G
Yuen2017 G
ARID2     2-1379-003chr12:
46233502-46233502
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ARID2     2-1306-003chr12:
46177113-46177118
TATATCTintronicDe novo--Yuen2017 G
ARID2     F6X5Xchr12:
46285873-46285873
CTexonicUnknownnonsynonymous SNVNM_152641c.C5141Tp.S1714F24.21.782E-5Wang2020 T
Wang2020 T
ARID2     1-0567-004chr12:
46189441-46189441
GAintronicDe novo--Yuen2017 G
ARID2     2-1196-003chr12:
46139659-46139659
AGintronicDe novo--Yuen2017 G
ARID2     1885-23669chr12:
46231491-46231491
GAsplicingDe novosplicing15.3-Callaghan2019 G
ARID2     2-1291-003chr12:
46162961-46162961
CGintronicDe novo--Yuen2016 G
ARID2     245150chr12:
46244283-46244283
CTexonicDe novostopgainNM_152641c.C2377Tp.Q793X41.0-Wang2020 T
Wang2020 T
ARID2     SD0201.p1chr12:
46246296-46246296
CTexonicPaternalnonsynonymous SNVNM_152641c.C4390Tp.R1464C17.896.591E-5Wang2020 T
Wang2020 T
ARID2     AU4033303chr12:
46221130-46221130
TCintronicDe novo--Yuen2017 G
ARID2     1-0338-005chr12:
46174655-46174655
AGintronicDe novo--Yuen2017 G
ARID2     165_1_a.2.1chr12:
46205243-46205243
TGexonicUnknownnonsynonymous SNVNM_152641c.T327Gp.D109E14.12-Wang2020 T
ARID2     165_2_a.2.1chr12:
46205243-46205243
TGexonicUnknownnonsynonymous SNVNM_152641c.T327Gp.D109E14.12-Wang2020 T
ARID2     AU3125301chr12:
46125223-46125223
GAintronicDe novo--Yuen2017 G
ARID2     1-0565-004chr12:
46311757-46311760
TATGTintergenicDe novo--Yuen2017 G
ARID2     1-0045-003chr12:
46174588-46174588
TAintronicDe novo--Yuen2017 G
ARID2     SSC05756chr12:
46230691-46230691
CTexonicDe novononsynonymous SNVNM_152641c.C940Tp.R314C27.1-Lim2017 E
ARID2     7-0175-003chr12:
46188980-46188980
CTintronicDe novo--Yuen2017 G
ARID2     AU2458302chr12:
46238501-46238501
TGintronicDe novo--Yuen2017 G
ARID2     1-0640-003chr12:
46155152-46155152
GAintronicDe novo--Yuen2017 G
ARID2     1-0382-004chr12:
46310353-46310353
CTintergenicDe novo--Yuen2017 G
ARID2     AU4150301chr12:
46150948-46150948
TGintronicDe 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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