Variant Results

or

Results for "BCL9L"

Variant Events: 16

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

14576.p1

chr11:
118769835-118769835

G

A

exonic

De novo

synonymous SNV

NM_182557

c.C3789T

p.P1263P

-

4.335E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BCL9L

AU3506302

chr11:
118824602-118824602

A

G

intergenic

De novo

-

Yuen2017 G

BCL9L

200675736@1082034752

chr11:
118779312-118779312

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C79T

p.R27C

19.9

5.881E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCL9L

Chen2017:120

chr11:
118779312-118779312

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C79T

p.R27C

19.9

5.881E-5

Chen2017 E

BCL9L

AU1848302

chr11:
118801227-118801227

T

C

intergenic

De novo

-

Yuen2017 G

BCL9L

SSC05753

chr11:
118772970-118772970

A

C

exonic

De novo

synonymous SNV

NM_182557

c.T1482G

p.G494G

-

Fu2022 E
Trost2022 G

BCL9L

200675736_1082034752

chr11:
118779312-118779312

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C79T

p.R27C

19.9

5.881E-5

Fu2022 E

BCL9L

458-04-101669

chr11:
118769857-118769857

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C3767T

p.P1256L

19.81

1.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCL9L

36911

chr11:
118769835-118769835

G

A

exonic

De novo

synonymous SNV

NM_182557

c.C3789T

p.P1263P

-

4.335E-5

Trost2022 G

BCL9L

MSSNG00344-004

chr11:
118772449-118772449

C

T

exonic

De novo

nonsynonymous SNV

NM_182557

c.G2003A

p.R668Q

19.43

2.512E-5

Trost2022 G

BCL9L

G01-GEA-102-HI

chr11:
118773377-118773377

T

C

exonic

De novo

nonsynonymous SNV

NM_182557

c.A1075G

p.T359A

1.919

8.604E-6

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCL9L

12417.p1

chr11:
118772970-118772970

A

C

exonic

De novo

synonymous SNV

NM_182557

c.T1482G

p.G494G

-

Satterstrom2020 E

BCL9L

SP0027434

chr11:
118769668-118769668

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C3956T

p.T1319M

20.4

5.828E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

BCL9L

SP0052828

chr11:
118772216-118772216

G

A

exonic

De novo

nonsynonymous SNV

NM_182557

c.C2236T

p.R746W

15.17

1.651E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

BCL9L

AU034903

chr11:
118784161-118784161

G

C

intergenic

De novo

-

Yuen2017 G

BCL9L

SP0067087

chr11:
118773665-118773665

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

Source Variant Information

, -

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
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