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Results for "BCL9"

Variant Events: 18

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
BCL9     11768_p1chr1:
147092824-147092824
ACexonicDe novononsynonymous SNVNM_004326c.A2863Cp.T955P9.661-Fu2022 E
BCL9     7-0119-003chr1:
147024843-147024843
ACintronicDe novo--Yuen2017 G
BCL9     AGG0393chr1:
147095824-147095824
AGexonicDe novosynonymous SNVNM_004326c.A3345Gp.S1115S--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BCL9     547669682924-Cchr1:
147091500-147091500
AACexonicDe novoframeshift insertionNM_004326c.1540dupCp.G513fs-0.002Fu2022 E
BCL9     2-0028-003chr1:
147039029-147039029
GCintronicDe novo--Yuen2016 G
Yuen2017 G
BCL9     AU2303301chr1:
147033056-147033056
CTintronicDe novo--Trost2022 G
BCL9     AU2156303chr1:
147014893-147014894
ATAintronicDe novo--Trost2022 G
BCL9     AGG0019chr1:
147096660-147096660
TCexonicDe novononsynonymous SNVNM_004326c.T4181Cp.I1394T12.63-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BCL9     AU0540302chr1:
147083732-147083732
GAintronicDe novo--Trost2022 G
BCL9     MSSNG00329-003chr1:
147081672-147081672
GAintronicDe novo--Trost2022 G
BCL9     12637.p1chr1:
147012822-147012822
CAupstreamDe novo--Wilfert2021 G
BCL9     mAGRE4663chr1:
147084782-147084784
CAGCexonicPaternalframeshift deletionNM_004326c.155_156delp.Q52fs-5.039E-5Cirnigliaro2023 G
BCL9     mAGRE4662chr1:
147084782-147084784
CAGCexonicPaternalframeshift deletionNM_004326c.155_156delp.Q52fs-5.039E-5Cirnigliaro2023 G
BCL9     AU3617302chr1:
147044622-147044622
CGintronicDe novo--Yuen2017 G
BCL9     SP0185417chr1:
147094297-147094297
GAexonicDe novononsynonymous SNVNM_004326c.G3128Ap.R1043H36.01.647E-5Trost2022 G
BCL9     2-0223-004chr1:
147080752-147080752
CTintronicDe novo--Trost2022 G
Yuen2017 G
BCL9     SP0121959chr1:
147091024-147091024
CGexonicDe novononsynonymous SNVNM_004326c.C1063Gp.Q355E21.1-Fu2022 E
Trost2022 G
Zhou2022 GE
BCL9     SP0092918chr1:
147091180-147091180
CTexonicDe novostopgainNM_004326c.C1219Tp.Q407X43.0-Fu2022 E
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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