Variant Results

or

Results for "BCL2L11"

Variant Events: 13

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.p1

chr2:
111881511-111881511

G

A

exonic

De novo

synonymous SNV

NM_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-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BCL2L11

68648

chr2:
111881511-111881511

G

A

exonic

De novo

synonymous SNV

NM_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-6

Fu2022 E
Trost2022 G

BCL2L11

7-0397-003

chr2:
111880219-111880219

G

C

intronic

De novo

-

Trost2022 G

BCL2L11

MSSNG00341-004

chr2:
111909170-111909170

T

A

intronic

De novo

-

Trost2022 G

BCL2L11

1-0627-006

chr2:
112037647-112037647

A

G

intergenic

De novo

-

Yuen2017 G

BCL2L11

7-0249-004

chr2:
111909888-111909888

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCL2L11

3-0019-000

chr2:
111920294-111920294

T

C

intronic

De novo

-

Trost2022 G

BCL2L11

2-0145-003

chr2:
112004078-112004078

A

G

intergenic

De novo

-

Yuen2017 G

BCL2L11

SP0103039

chr2:
111902032-111902032

C

T

intronic

De novo

-

5.973E-5

Fu2022 E

BCL2L11

PN400166

chr2:
111921774-111921774

G

A

exonic

Unknown

nonsynonymous SNV

NM_001204106
NM_138621
NM_006538

c.G293A
c.G563A
c.G383A

p.R98H
p.R188H
p.R128H

19.44

8.237E-6

Leblond2019 E

BCL2L11

AU3724302

chr2:
111911582-111911582

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCL2L11

1987-24091

chr2:
111921708-111921708

A

C

splicing

Inherited

splicing

15.12

-

Callaghan2019 G

BCL2L11

AU4372309

chr2:
111904978-111904978

C

T

intronic

De novo

-

Yuen2017 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
Curation notes	View
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