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Results for "BCL6"

Variant Events: 25

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
BCL6     1-0277-003chr3:
187463726-187463726
GAupstreamDe novo--Yuen2016 G
Yuen2017 G
BCL6     7-0253-005chr3:
187524199-187524199
TCintergenicDe novo--Yuen2017 G
BCL6     2-1244-003chr3:
187814681-187814681
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
BCL6     2-1328-003chr3:
187689942-187689942
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
BCL6     3-0482-000chr3:
187440375-187440375
GTexonicDe novononsynonymous SNVNM_001134738
NM_001130845
NM_001706
c.C1824A
c.C1992A
c.C1992A
p.N608K
p.N664K
p.N664K
16.91-Yuen2017 G
BCL6     1-0446-003chr3:
187603432-187603432
CCCTCTTTATintergenicDe novo--Yuen2017 G
BCL6     1-0745-003chr3:
187796740-187796740
CTintergenicDe novo--Yuen2017 G
BCL6     AU3397302chr3:
187532862-187532874
ACAAGAGACCCGCACintergenicDe novo--Yuen2017 G
BCL6     13612.p1chr3:
187451338-187451338
CTexonicDe novosynonymous SNVNM_001134738
NM_001130845
NM_001706
c.G144A
c.G144A
c.G144A
p.T48T
p.T48T
p.T48T
-0.0032Iossifov2012 E
BCL6     1-0638-003chr3:
187832888-187832888
GAintergenicDe novo--Yuen2017 G
BCL6     SSC04381chr3:
187446290-187446290
TGexonicDe novosynonymous SNVNM_001134738
NM_001130845
NM_001706
c.A1398C
c.A1398C
c.A1398C
p.S466S
p.S466S
p.S466S
--Lim2017 E
BCL6     PN400102chr3:
187451364-187451364
GAexonicUnknownnonsynonymous SNVNM_001134738
NM_001130845
NM_001706
c.C118T
c.C118T
c.C118T
p.R40C
p.R40C
p.R40C
21.11.0E-4Leblond2019 E
BCL6     AU3692302chr3:
187852607-187852607
AGintergenicDe novo--Yuen2017 G
BCL6     AU1909304chr3:
187601868-187601868
ATintergenicDe novo--Yuen2017 G
BCL6     12099.p1chr3:
187446290-187446290
TGexonicDe novo, Mosaicsynonymous SNVNM_001134738
NM_001130845
NM_001706
c.A1398C
c.A1398C
c.A1398C
p.S466S
p.S466S
p.S466S
--Dou2017 E
Krumm2015 E
BCL6     1-0200-004chr3:
187798759-187798759
GAintergenicDe novo--Yuen2017 G
BCL6     2-1425-003chr3:
187513200-187513200
GGAAGGAGGAintergenicDe novo--Yuen2017 G
BCL6     5-0109-003chr3:
187598320-187598320
AGintergenicDe novo--Yuen2017 G
BCL6     1-0906-003chr3:
187733564-187733564
AGintergenicDe novo--Yuen2017 G
BCL6     1-0579-003chr3:
187568155-187568155
CTintergenicDe novo--Yuen2017 G
BCL6     1-0973-003chr3:
187713459-187713459
ATintergenicDe novo--Yuen2017 G
BCL6     1-0674-004chr3:
187668037-187668037
TGintergenicDe novo--Yuen2017 G
BCL6     2-1567-003chr3:
187783482-187783482
GAintergenicDe novo--Yuen2017 G
BCL6     SP0139811chr3:
187451296-187451296
CTintronicDe novo--Fu2022 E
BCL6     1-0565-004chr3:
187637186-187637186
CAintergenicDe 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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