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Results for "BEST3"

Variant Events: 7

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
BEST3     G01-GEA-216-HIchr12:
70049038-70049038
GAexonicDe novosynonymous SNVNM_152439
NM_001282613
NM_032735
c.C1017T
c.C1338T
c.C1656T
p.P339P
p.P446P
p.P552P
--Satterstrom2020 E
BEST3     AU3900302chr12:
70059161-70059161
TCintronicDe novo--Yuen2017 G
BEST3     SSC05875chr12:
70087547-70087547
GTexonicDe novononsynonymous SNVNM_001282613
NM_001282615
NM_001282616
NM_001282614
NM_032735
c.C70A
c.C70A
c.C70A
c.C388A
c.C388A
p.R24S
p.R24S
p.R24S
p.R130S
p.R130S
23.2-Lim2017 E
BEST3     3-0431-000chr12:
70073301-70073301
AGintronicDe novo--Yuen2017 G
BEST3     iHART1884chr12:
70048748-70048749
AGAexonicMaternalframeshift deletionNM_152439
NM_001282613
NM_032735
c.1306delC
c.1627delC
c.1945delC
p.L436fs
p.L543fs
p.L649fs
-6.633E-5Ruzzo2019 G
BEST3     2-1591-003chr12:
70068841-70068841
CGintronicDe novo--Yuen2017 G
BEST3     12076.p1chr12:
70087547-70087547
GTexonicDe novononsynonymous SNVNM_001282613
NM_001282615
NM_001282616
NM_001282614
NM_032735
c.C70A
c.C70A
c.C70A
c.C388A
c.C388A
p.R24S
p.R24S
p.R24S
p.R130S
p.R130S
23.2-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
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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