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Results for "ARID4B"

Variant Events: 20

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
ARID4B     2-1605-004chr1:
235444436-235444436
GAintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     1-0558-003chr1:
235373297-235373297
CGintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     AU079605chr1:
235341416-235341416
TCintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     10-1118-003chr1:
235333307-235333307
ATintronicDe novo--Trost2022 G
ARID4B     10-1118-003chr1:
235330997-235330997
CGUTR3De novo--Trost2022 G
ARID4B     AU2320301chr1:
235366319-235366319
GAintronicDe novo--Trost2022 G
ARID4B     SP0126540chr1:
235345367-235345367
GAexonicDe novononsynonymous SNVNM_031371
NM_001206794
NM_016374
c.C2609T
c.C2867T
c.C2867T
p.P870L
p.P956L
p.P956L
8.8472.485E-5Trost2022 G
ARID4B     1-0079-008chr1:
235413677-235413677
AGintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     1-0604-003chr1:
235372993-235372993
CTintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     2-0238-003chr1:
235464992-235465006
GTAGCTGGGACCACATintronicDe novo--Trost2022 G
ARID4B     2-0238-004chr1:
235464992-235465006
GTAGCTGGGACCACATintronicDe novo--Trost2022 G
ARID4B     13171.p1chr1:
235346761-235346761
GCintronicDe novo--Turner2016 G
ARID4B     3-0198-000chr1:
235397501-235397503
AGTAintronicDe novo--Trost2022 G
ARID4B     12795.p1chr1:
235404375-235404375
ACintronicDe novo--Turner2016 G
ARID4B     MSSNG00117-003chr1:
235390243-235390243
CTintronicDe novo--Trost2022 G
ARID4B     1-1204-003chr1:
235456614-235456614
ACintronicDe novo--Trost2022 G
ARID4B     1-0652-004chr1:
235400120-235400121
GCAGintronicDe novo--Trost2022 G
ARID4B     AU2029302chr1:
235400796-235400796
AGintronicDe novo--Trost2022 G
Yuen2017 G
ARID4B     AU2029303chr1:
235400796-235400796
AGintronicDe novo--Yuen2017 G
ARID4B     MT_63.3chr1:
235377184-235377184
GAexonicDe novostopgainNM_001206794
NM_016374
c.C1741T
c.C1741T
p.R581X
p.R581X
44.0-Antaki2022 GE
Trost2022 G
Zhou2022 GE
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 notesView
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