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Results for "BCL2L11"

Variant Events: 8

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
BCL2L11     11736.p1chr2:
111881511-111881511
GAexonicDe novosynonymous SNVNM_001204108
NM_001204109
NM_138621
NM_138622
NM_138624
NM_138626
c.G189A
c.G189A
c.G189A
c.G189A
c.G189A
c.G189A
p.P63P
p.P63P
p.P63P
p.P63P
p.P63P
p.P63P
-8.297E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
BCL2L11     2-0145-003chr2:
112004078-112004078
AGintergenicDe novo--Yuen2017 G
BCL2L11     PN400166chr2:
111921774-111921774
GAexonicUnknownnonsynonymous SNVNM_001204106
NM_138621
NM_006538
c.G293A
c.G563A
c.G383A
p.R98H
p.R188H
p.R128H
19.448.237E-6Leblond2019 E
BCL2L11     AU3724302chr2:
111911582-111911582
CTintronicDe novo--Yuen2017 G
BCL2L11     1987-24091chr2:
111921708-111921708
ACsplicingInheritedsplicing15.12-Callaghan2019 G
BCL2L11     AU4372309chr2:
111904978-111904978
CTintronicDe novo--Yuen2017 G
BCL2L11     1-0627-006chr2:
112037647-112037647
AGintergenicDe novo--Yuen2017 G
BCL2L11     7-0249-004chr2:
111909888-111909888
GAintronicDe 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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