Variant Results

or

Results for "LRBA"

Variant Events: 69

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

LRBA

AU2292302

chr4:
151294881-151294881

C

A

intronic

De novo

-

Yuen2017 G

LRBA

PN400455

chr4:
151186882-151186882

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C8548T
c.C8584T

p.R2850C
p.R2862C

21.1

0.0013

Leblond2019 E

LRBA

2-1305-003

chr4:
151658565-151658565

T

C

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:19544

chr4:
151271310-151271310

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C7196T
c.C7229T

p.A2399V
p.A2410V

32.0

-

Li2017 T

LRBA

AU047704

chr4:
151907013-151907013

C

T

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:20761

chr4:
151604815-151604815

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C5809T
c.C5809T

p.H1937Y
p.H1937Y

32.0

-

Li2017 T

LRBA

AU4027306

chr4:
151559115-151559115

G

A

intronic

De novo

-

Yuen2017 G

LRBA

AU4072303

chr4:
151617705-151617705

G

A

intronic

De novo

-

Yuen2017 G

LRBA

SP0110067

chr4:
151356773-151356773

G

C

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.C7009G
c.C7042G

p.R2337G
p.R2348G

18.56

-

Fu2022 E

LRBA

1-0208-003

chr4:
151522239-151522239

C

T

intronic

De novo

-

Yuen2017 G

LRBA

2-0088-003

chr4:
152016463-152016463

C

T

intergenic

De novo

-

Yuen2017 G

LRBA

Li2017:22913

chr4:
151412155-151412155

T

G

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.A6363C
c.A6396C

p.K2121N
p.K2132N

22.2

-

Li2017 T

LRBA

AU025704

chr4:
151211710-151211710

C

T

intronic

De novo

-

Yuen2017 G

LRBA

AU4072303

chr4:
151617601-151617601

T

C

intronic

De novo

-

Yuen2017 G

LRBA

1-0079-003

chr4:
151585210-151585211

TG

T

intronic

De novo

-

Yuen2017 G

LRBA

1-0559-003

chr4:
151315076-151315076

G

C

intronic

De novo

-

Yuen2017 G

LRBA

AU3779302

chr4:
151471404-151471404

T

C

intronic

De novo

-

Yuen2017 G

LRBA

11462.p1

chr4:
151749715-151749715

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001199282
NM_006726

c.C4788A
c.C4788A

p.S1596R
p.S1596R

13.43

-

Krupp2017 E

LRBA

5-0017-003

chr4:
151557169-151557170

AG

A

intronic

De novo

-

Yuen2017 G

LRBA

1-0325-003

chr4:
151201961-151201961

G

A

intronic

De novo

-

Yuen2017 G

LRBA

1-0976-003

chr4:
151874252-151874252

T

G

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:17585

chr4:
151850022-151850022

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C412T
c.C412T

p.L138F
p.L138F

25.5

-

Li2017 T

LRBA

2-1696-003

chr4:
151747123-151747138

AAAACAAACAAACAAA

AAAACAAACAAA

intronic

De novo

-

Yuen2017 G

LRBA

1-0354-006

chr4:
151202455-151202455

G

A

intronic

De novo

-

Yuen2017 G

LRBA

2-1131-003

chr4:
151916305-151916305

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRBA

DEASD_1033_001

chr4:
151770141-151770141

C

A

exonic

De novo

stopgain

NM_001199282
NM_006726

c.G4168T
c.G4168T

p.E1390X
p.E1390X

49.0

-

Fu2022 E

LRBA

2-0116-004

chr4:
151613288-151613291

ACTC

A

intronic

De novo

-

Yuen2017 G

LRBA

2-1255-003

chr4:
151270317-151270317

G

A

intronic

De novo

-

Yuen2017 G

LRBA

2-1370-003

chr4:
151310413-151310413

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRBA

AU4243302

chr4:
151486170-151486170

G

A

intronic

De novo

-

Yuen2017 G

LRBA

1-0896-003

chr4:
151738605-151738605

T

C

intronic

De novo

-

Yuen2017 G

LRBA

AU2292301

chr4:
151294881-151294881

C

A

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:19773

chr4:
151223906-151223906

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.G7888A
c.G7921A

p.V2630I
p.V2641I

25.9

7.416E-5

Li2017 T

LRBA

A31

chr4:
151935640-151935640

G

T

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.C155A
c.C155A

p.T52N
p.T52N

19.62

8.323E-6

Wu2018 G

LRBA

1-0757-003

chr4:
151473862-151473862

C

T

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:17615

chr4:
151271220-151271220

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C7286T
c.C7319T

p.A2429V
p.A2440V

23.7

-

Li2017 T

LRBA

A18

chr4:
151850039-151850039

C

T

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.G395A
c.G395A

p.G132D
p.G132D

26.1

-

Wu2018 G

LRBA

AU062204

chr4:
151376985-151376985

C

G

intronic

De novo

-

Yuen2017 G

LRBA

A16

chr4:
151392784-151392784

G

A

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.C6659T
c.C6692T

p.T2220M
p.T2231M

24.2

8.301E-6

Wu2018 G

LRBA

Li2017:21

chr4:
151392784-151392784

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C6659T
c.C6692T

p.T2220M
p.T2231M

24.2

8.301E-6

Li2017 T

LRBA

A10

chr4:
151827481-151827481

C

T

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.G1570A
c.G1570A

p.G524S
p.G524S

36.0

2.0E-4

Wu2018 G

LRBA

2-1330-003

chr4:
151211816-151211816

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRBA

AU060703

chr4:
151645764-151645764

C

G

intronic

De novo

-

Yuen2017 G

LRBA

PN400116

chr4:
151186882-151186882

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C8548T
c.C8584T

p.R2850C
p.R2862C

21.1

0.0013

Leblond2019 E

LRBA

1-0486-003

chr4:
151468124-151468124

A

G

intronic

De novo

-

Yuen2017 G

LRBA

AU4392301

chr4:
151706496-151706496

G

A

intronic

De novo

-

Yuen2017 G

LRBA

2-0002-005

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

LRBA

13964.p1

chr4:
151267453-151267453

G

A

intronic

De novo

-

Turner2016 G

LRBA

ASC_CA_67_A1

chr4:
151207154-151207154

C

T

exonic

De novo

nonsynonymous SNV

NM_001199282
NM_006726

c.G8047A
c.G8083A

p.G2683S
p.G2695S

36.0

7.255E-5

Fu2022 E
Satterstrom2020 E

LRBA

1-0292-005

chr4:
151489793-151489793

T

TTAAGTA

intronic

De novo

-

Yuen2017 G

LRBA

PN400584

chr4:
151207154-151207154

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.G8047A
c.G8083A

p.G2683S
p.G2695S

36.0

7.255E-5

Leblond2019 E

LRBA

AU021204

chr4:
151491339-151491339

A

G

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:20316

chr4:
151727449-151727449

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.G5492A
c.G5492A

p.G1831E
p.G1831E

31.0

-

Li2017 T

LRBA

7-0255-003

chr4:
151467738-151467738

T

C

intronic

De novo

-

Yuen2017 G

LRBA

4B858

chr4:
151749583-151749583

C

T

exonic

De novo

synonymous SNV

NM_001199282
NM_006726

c.G4920A
c.G4920A

p.V1640V
p.V1640V

3.544

-

Fu2022 E
Satterstrom2020 E

LRBA

1-0321-004

chr4:
151846608-151846608

G

C

intronic

De novo

-

Yuen2017 G

LRBA

AU4467302

chr4:
151739899-151739899

T

G

intronic

De novo

-

Yuen2017 G

LRBA

AU3911301

chr4:
151415929-151415929

C

T

intronic

De novo

-

Yuen2017 G

LRBA

1-0253-004

chr4:
151497430-151497430

G

A

intronic

De novo

-

Yuen2017 G

LRBA

AU031004

chr4:
151324300-151324300

T

C

intronic

De novo

-

Yuen2017 G

LRBA

AU3937301

chr4:
151827768-151827769

AT

A

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:27851

chr4:
151788996-151788998

CAG

C

exonic

Unknown

frameshift deletion

NM_001199282
NM_006726

c.2591_2592del
c.2591_2592del

p.S864fs
p.S864fs

-

Li2017 T

LRBA

1-0296-004

chr4:
151293902-151293902

G

GCGCCCAGC

intronic

De novo

-

Yuen2017 G

LRBA

Li2017:16082

chr4:
151392784-151392784

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C6659T
c.C6692T

p.T2220M
p.T2231M

24.2

8.301E-6

Li2017 T

LRBA

1-0272-003

chr4:
151592601-151592601

G

A

intronic

De novo

-

Yuen2017 G

LRBA

PN400219

chr4:
151186882-151186882

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C8548T
c.C8584T

p.R2850C
p.R2862C

21.1

0.0013

Leblond2019 E

LRBA

Li2017:28507

chr4:
151207117-151207117

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199282
NM_006726

c.C8084T
c.C8120T

p.A2695V
p.A2707V

34.0

1.0E-4

Li2017 T

LRBA

1-0375-003

chr4:
151278776-151278776

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRBA

2-1089-004

chr4:
151594432-151594432

T

G

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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