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Results for "BCL9L"

Variant Events: 9

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
BCL9L     458-04-101669chr11:
118769857-118769857
GAexonicDe novononsynonymous SNVNM_182557c.C3767Tp.P1256L19.811.0E-4Satterstrom2020 E
BCL9L     14576.p1chr11:
118769835-118769835
GAexonicDe novosynonymous SNVNM_182557c.C3789Tp.P1263P-4.335E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
BCL9L     AU3506302chr11:
118824602-118824602
AGintergenicDe novo--Yuen2017 G
BCL9L     G01-GEA-102-HIchr11:
118773377-118773377
TCexonicDe novononsynonymous SNVNM_182557c.A1075Gp.T359A1.9198.604E-6Lim2017 E
Satterstrom2020 E
BCL9L     200675736@1082034752chr11:
118779312-118779312
GAexonicDe novononsynonymous SNVNM_182557c.C79Tp.R27C19.95.881E-5Satterstrom2020 E
BCL9L     12417.p1chr11:
118772970-118772970
ACexonicDe novosynonymous SNVNM_182557c.T1482Gp.G494G--Satterstrom2020 E
BCL9L     Chen2017:120chr11:
118779312-118779312
GAexonicDe novononsynonymous SNVNM_182557c.C79Tp.R27C19.95.881E-5Chen2017 E
BCL9L     AU034903chr11:
118784161-118784161
GCintergenicDe novo--Yuen2017 G
BCL9L     AU1848302chr11:
118801227-118801227
TCintergenicDe 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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