Variant Results

or

Results for "BCL11A"

Variant Events: 42

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

BCL11A

3-0018-000

chr2:
60694221-60694221

G

A

intronic

De novo

-

Yuen2017 G

BCL11A

AU007503

chr2:
60972232-60972232

C

A

intergenic

De novo

-

Yuen2017 G

BCL11A

AU4327303

chr2:
60844278-60844278

G

C

intergenic

De novo

-

Yuen2017 G

BCL11A

AU4327303

chr2:
60849068-60849068

G

A

intergenic

De novo

-

Yuen2017 G

BCL11A

2-1314-003

chr2:
60771544-60771544

T

C

intronic

De novo

-

Yuen2016 G

BCL11A

AU4327303

chr2:
60861081-60861081

G

A

intergenic

De novo

-

Yuen2017 G

BCL11A

2-0145-004

chr2:
60700186-60700186

G

GTACGTGTGTGTGTGTTTGCA

intronic

De novo

-

Yuen2017 G

BCL11A

AU4024303

chr2:
60762880-60762880

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCL11A

AU4327303

chr2:
60862847-60862847

G

A

intergenic

De novo

-

Yuen2017 G

BCL11A

DEASD_0096_001

chr2:
60688721-60688722

GA

G

exonic

De novo

frameshift deletion

NM_018014
NM_022893

c.1325delT
c.1325delT

p.L442fs
p.L442fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCL11A

13183.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_018014
NM_022893
NM_018014
NM_022893

c.792dupC
c.792dupC
c.793dupC
c.793dupC

p.L265fs
p.L265fs
p.L265fs
p.L265fs

-

2.0E-4

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE

BCL11A

AU4159302

chr2:
60881910-60881910

G

C

intergenic

De novo

-

Yuen2017 G

BCL11A

74-0075

chr2:
60972232-60972232

C

A

intergenic

De novo

-

Michaelson2012 G

BCL11A

2-0214-003

chr2:
60898201-60898201

T

C

intergenic

De novo

-

Yuen2017 G

BCL11A

2-1153-003

chr2:
60891121-60891121

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BCL11A

SJD_74.3

chr2:
60695010-60695010

G

A

intronic

De novo

-

Trost2022 G

BCL11A

2-1430-003

chr2:
60758906-60758906

C

T

intronic

De novo

-

Yuen2017 G

BCL11A

MSSNG00402-003

chr2:
60718952-60718952

G

A

intronic

De novo

-

Trost2022 G

BCL11A

SSC06946

chr2:
60689253-60689253

A

AG

exonic

De novo

frameshift insertion

NM_018014
NM_022893

c.793dupC
c.793dupC

p.L265fs
p.L265fs

-

2.0E-4

Trost2022 G

BCL11A

7-0373-003

chr2:
60694294-60694294

G

T

intronic

De novo

-

Trost2022 G

BCL11A

SP0003694

chr2:
60684501-60684502

TA

T

UTR3

De novo

-

Trost2022 G

BCL11A

1-0346-004

chr2:
60874831-60874831

T

C

intergenic

De novo

-

Yuen2017 G

BCL11A

SP0117538

chr2:
60684501-60684502

TA

T

UTR3

De novo

-

Trost2022 G

BCL11A

2-1402-003

chr2:
60781553-60781555

TGG

TG

upstream

De novo

-

Yuen2017 G

BCL11A

AU3175302

chr2:
60836837-60836837

G

A

intergenic

De novo

-

Yuen2017 G

BCL11A

SP0076006

chr2:
60684501-60684501

T

TA

UTR3

De novo

-

Trost2022 G

BCL11A

AU4159301

chr2:
60939132-60939132

A

G

intergenic

De novo

-

Yuen2017 G

BCL11A

2-1425-003

chr2:
60851206-60851206

T

C

intergenic

De novo

-

Yuen2017 G

BCL11A

5-0085-003

chr2:
60733170-60733170

G

A

intronic

De novo

-

Trost2022 G

BCL11A

2-1378-003

chr2:
60849571-60849571

C

G

intergenic

De novo

-

Yuen2017 G

BCL11A

2-1430-003A

chr2:
60758906-60758906

C

T

intronic

De novo

-

Trost2022 G

BCL11A

SP0159378

chr2:
60687680-60687680

C

CA

exonic

De novo

frameshift insertion

NM_022893

c.2366dupT

p.M789fs

-

Trost2022 G
Zhou2022 GE

BCL11A

AU3712302

chr2:
60839970-60839970

G

T

intergenic

De novo

-

Yuen2017 G

BCL11A

1-0555-003

chr2:
60909180-60909181

TG

T

intergenic

De novo

-

Yuen2017 G

BCL11A

2-1425-004

chr2:
60807686-60807686

C

G

intergenic

De novo

-

Yuen2017 G

BCL11A

SP0019139

chr2:
60773476-60773476

G

A

intronic

De novo

-

Fu2022 E

BCL11A

EGAN00001100922

chr2:
60688588-60688588

C

A

exonic

De novo

stopgain

NM_018014
NM_022893

c.G1459T
c.G1459T

p.E487X
p.E487X

36.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCL11A

SP0126886

chr2:
60773196-60773196

C

T

exonic

De novo

nonsynonymous SNV

NM_018014
NM_022893
NM_138559

c.G295A
c.G295A
c.G295A

p.V99M
p.V99M
p.V99M

16.93

-

Fu2022 E
Zhou2022 GE

BCL11A

1-0935-003

chr2:
60880788-60880788

C

A

intergenic

De novo

-

Yuen2017 G

BCL11A

2-0129-004

chr2:
60905894-60905894

C

T

intergenic

De novo

-

Yuen2017 G

BCL11A

AU3905302

chr2:
60962574-60962574

C

G

intergenic

De novo

-

Yuen2017 G

BCL11A

Hu2022:22

chr2:
60689252-60689254

CAG

C

exonic

De novo

frameshift deletion

NM_018014
NM_022893

c.793_794del
c.793_794del

p.L265fs
p.L265fs

-

Hu2022 T

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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