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Results for "ARID5B"

Variant Events: 16

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
ARID5B     7-0192-003chr10:
63919138-63919138
TCintergenicDe novo--Yuen2017 G
ARID5B     AU4152303chr10:
63796809-63796809
CTintronicDe novo--Yuen2017 G
ARID5B     1-0531-003chr10:
63789731-63789731
ACintronicDe novo--Yuen2016 G
Yuen2017 G
ARID5B     1711001chr10:
63851938-63851938
AGexonicDe novononsynonymous SNVNM_001244638
NM_032199
c.A1987G
c.A2716G
p.T663A
p.T906A
19.45-Satterstrom2020 E
ARID5B     iHART1513chr10:
63944087-63944088
GAGintergenicPaternal--Ruzzo2019 G
ARID5B     AU2123301chr10:
63762898-63762898
CTintronicDe novo--Yuen2017 G
ARID5B     09C82140chr10:
63759976-63759976
TTGexonicDe novoframeshift insertionNM_032199c.630dupGp.L210fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ARID5B     13166.p1chr10:
63851326-63851326
GCexonicDe novononsynonymous SNVNM_001244638
NM_032199
c.G1375C
c.G2104C
p.A459P
p.A702P
14.668.42E-5Ji2016 E
Krumm2015 E
ARID5B     2-1212-003chr10:
63735531-63735531
TGintronicDe novo--Yuen2017 G
ARID5B     400-08-110627chr10:
63817095-63817095
CTintronicDe novo-8.292E-6Satterstrom2020 E
ARID5B     1-0153-005chr10:
63935694-63935694
GCintergenicDe novo--Yuen2017 G
ARID5B     AU4154303chr10:
63882112-63882112
TCintergenicDe novo--Yuen2017 G
ARID5B     2-1252-003chr10:
63689730-63689730
GAintronicDe novo--Yuen2017 G
ARID5B     AU031404chr10:
63694737-63694737
AGintronicDe novo--Yuen2017 G
ARID5B     AU2000305chr10:
63804345-63804345
TCintronicDe novo--Yuen2017 G
ARID5B     2-1373-003chr10:
63842311-63842311
TCintronicDe 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 notesView
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