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Results for "LRBA"

Variant Events: 106

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     7-0274-003chr4:
151839629-151839629
GAintronicDe novo--Trost2022 G
LRBA     7-0288-003chr4:
151862592-151862592
CTintronicDe novo--Trost2022 G
LRBA     1-1055-003chr4:
151787983-151787983
ACintronicDe novo--Trost2022 G
LRBA     REACH000564chr4:
151816959-151816959
GAintronicDe novo--Trost2022 G
LRBA     MSSNG00099-004chr4:
151718661-151718661
ATintronicDe novo--Trost2022 G
LRBA     7-0082-003chr4:
151783476-151783477
GCATintronicDe novo--Trost2022 G
LRBA     3-0031-000chr4:
151704536-151704536
TGintronicDe novo--Trost2022 G
LRBA     2-1305-003chr4:
151658565-151658565
TCintronicDe novo--Yuen2017 G
LRBA     MSSNG00201-003chr4:
151711522-151711522
TGintronicDe novo--Trost2022 G
LRBA     AU047704chr4:
151907013-151907013
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     Li2017:20761chr4:
151604815-151604815
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C5809T
c.C5809T
p.H1937Y
p.H1937Y
32.0-Li2017 T
LRBA     REACH000533chr4:
151903225-151903225
GTintronicDe novo--Trost2022 G
LRBA     REACH000517chr4:
151934161-151934161
CGintronicDe novo--Trost2022 G
LRBA     3-0783-000chr4:
151862727-151862727
TGintronicDe novo--Trost2022 G
LRBA     10-0005-003chr4:
151872986-151872986
CTintronicDe novo--Trost2022 G
LRBA     SP0110067chr4:
151356773-151356773
GCexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.C7009G
c.C7042G
p.R2337G
p.R2348G
18.56-Fu2022 E
Trost2022 G
Zhou2022 GE
LRBA     1-0208-003chr4:
151522239-151522239
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     Li2017:22913chr4:
151412155-151412155
TGexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.A6363C
c.A6396C
p.K2121N
p.K2132N
22.2-Li2017 T
LRBA     1-0559-003chr4:
151315076-151315076
GCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     1-0325-003chr4:
151201961-151201961
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     1-0976-003chr4:
151874252-151874252
TGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     Li2017:17585chr4:
151850022-151850022
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C412T
c.C412T
p.L138F
p.L138F
25.5-Li2017 T
LRBA     SP0139963chr4:
151186916-151186916
GAexonicDe novosynonymous SNVNM_001199282
NM_006726
c.C8514T
c.C8550T
p.N2838N
p.N2850N
14.181.0E-4Trost2022 G
Zhou2022 GE
LRBA     1-0354-006chr4:
151202455-151202455
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     2-1131-003chr4:
151916305-151916305
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRBA     2-0116-004chr4:
151613288-151613291
ACTCAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     2-1255-003chr4:
151270317-151270317
GAintronicDe novo--Yuen2017 G
LRBA     2-1370-003chr4:
151310413-151310413
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRBA     AU4243302chr4:
151486170-151486170
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     1-0896-003chr4:
151738605-151738605
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU2292301chr4:
151294881-151294881
CAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     A31chr4:
151935640-151935640
GTexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.C155A
c.C155A
p.T52N
p.T52N
19.628.323E-6Wu2018 G
LRBA     Li2017:17615chr4:
151271220-151271220
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C7286T
c.C7319T
p.A2429V
p.A2440V
23.7-Li2017 T
LRBA     A18chr4:
151850039-151850039
CTexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.G395A
c.G395A
p.G132D
p.G132D
26.1-Wu2018 G
LRBA     AU062204chr4:
151376985-151376985
CGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     A16chr4:
151392784-151392784
GAexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.C6659T
c.C6692T
p.T2220M
p.T2231M
24.28.301E-6Wu2018 G
LRBA     A10chr4:
151827481-151827481
CTexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.G1570A
c.G1570A
p.G524S
p.G524S
36.02.0E-4Wu2018 G
LRBA     AU4392301chr4:
151706496-151706496
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     2-0002-005 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
LRBA     13964.p1chr4:
151267453-151267453
GAintronicDe novo--Turner2016 G
LRBA     1-0292-005chr4:
151489793-151489793
TTTAAGTAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU021204chr4:
151491339-151491339
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU4467302chr4:
151739899-151739899
TGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU3911301chr4:
151415929-151415929
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     Li2017:27851chr4:
151788996-151788998
CAGCexonicUnknownframeshift deletionNM_001199282
NM_006726
c.2591_2592del
c.2591_2592del
p.S864fs
p.S864fs
--Li2017 T
LRBA     1-0296-004chr4:
151293902-151293902
GGCGCCCAGCintronicDe novo--Yuen2017 G
LRBA     Li2017:28507chr4:
151207117-151207117
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C8084T
c.C8120T
p.A2695V
p.A2707V
34.01.0E-4Li2017 T
LRBA     AU2292302chr4:
151294881-151294881
CAintronicDe novo--Yuen2017 G
LRBA     PN400455chr4:
151186882-151186882
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C8548T
c.C8584T
p.R2850C
p.R2862C
21.10.0013Leblond2019 E
LRBA     Li2017:19544chr4:
151271310-151271310
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C7196T
c.C7229T
p.A2399V
p.A2410V
32.0-Li2017 T
LRBA     mAGRE5032chr4:
151817593-151817593
CAexonicPaternalstopgainNM_001199282
NM_006726
c.G2020T
c.G2020T
p.E674X
p.E674X
44.08.332E-6Cirnigliaro2023 G
LRBA     AU4027306chr4:
151559115-151559115
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU4072303chr4:
151617705-151617705
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     2-0088-003chr4:
152016463-152016463
CTintergenicDe novo--Yuen2017 G
LRBA     AU025704chr4:
151211710-151211710
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU4072303chr4:
151617601-151617601
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     1-0079-003chr4:
151585210-151585211
TGTintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU3779302chr4:
151471404-151471404
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     11462.p1chr4:
151749715-151749715
GTexonicMosaicnonsynonymous SNVNM_001199282
NM_006726
c.C4788A
c.C4788A
p.S1596R
p.S1596R
13.43-Krupp2017 E
LRBA     5-0017-003chr4:
151557169-151557170
AGAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     2-1696-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
LRBA     DEASD_1033_001chr4:
151770141-151770141
CAexonicDe novostopgainNM_001199282
NM_006726
c.G4168T
c.G4168T
p.E1390X
p.E1390X
49.0-Fu2022 E
LRBA     Li2017:19773chr4:
151223906-151223906
CTexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.G7888A
c.G7921A
p.V2630I
p.V2641I
25.97.416E-5Li2017 T
LRBA     1-0757-003chr4:
151473862-151473862
CTintronicDe novo--Yuen2017 G
LRBA     Li2017:21chr4:
151392784-151392784
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C6659T
c.C6692T
p.T2220M
p.T2231M
24.28.301E-6Li2017 T
LRBA     2-1330-003chr4:
151211816-151211816
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRBA     AU060703chr4:
151645764-151645764
CGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     PN400116chr4:
151186882-151186882
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C8548T
c.C8584T
p.R2850C
p.R2862C
21.10.0013Leblond2019 E
LRBA     1-0486-003chr4:
151468124-151468124
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     ASC_CA_67_A1chr4:
151207154-151207154
CTexonicDe novononsynonymous SNVNM_001199282
NM_006726
c.G8047A
c.G8083A
p.G2683S
p.G2695S
36.07.255E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LRBA     PN400584chr4:
151207154-151207154
CTexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.G8047A
c.G8083A
p.G2683S
p.G2695S
36.07.255E-5Leblond2019 E
LRBA     Li2017:20316chr4:
151727449-151727449
CTexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.G5492A
c.G5492A
p.G1831E
p.G1831E
31.0-Li2017 T
LRBA     MT_74.3chr4:
151332715-151332715
GAintronicDe novo--Trost2022 G
LRBA     7-0255-003chr4:
151467738-151467738
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     4B858chr4:
151749583-151749583
CTexonicDe novosynonymous SNVNM_001199282
NM_006726
c.G4920A
c.G4920A
p.V1640V
p.V1640V
3.544-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LRBA     7-0252-003chr4:
151357581-151357581
TCintronicDe novo--Trost2022 G
LRBA     2-1359-005chr4:
151297192-151297192
TCintronicDe novo--Trost2022 G
LRBA     1-0321-004chr4:
151846608-151846608
GCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     4-0064-003chr4:
151306318-151306318
TCintronicDe novo--Trost2022 G
LRBA     5-5164-003chr4:
151244765-151244765
CAintronicDe novo--Trost2022 G
LRBA     SJD_15.3chr4:
151296559-151296559
CTintronicDe novo--Trost2022 G
LRBA     1-0253-004chr4:
151497430-151497430
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     5-1008-003chr4:
151237789-151237789
GAintronicDe novo--Trost2022 G
LRBA     AU031004chr4:
151324300-151324300
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     AU3937301chr4:
151827768-151827769
ATAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     MSSNG00340-003chr4:
151403709-151403709
TGintronicDe novo--Trost2022 G
LRBA     AU2320301chr4:
151428405-151428405
ACintronicDe novo--Trost2022 G
LRBA     REACH000559chr4:
151380534-151380534
ACintronicDe novo--Trost2022 G
LRBA     MSSNG00127-004chr4:
151403378-151403378
CTintronicDe novo--Trost2022 G
LRBA     REACH000757chr4:
151361158-151361158
GCintronicDe novo--Trost2022 G
LRBA     2-1759-003chr4:
151380023-151380023
TCintronicDe novo--Trost2022 G
LRBA     7-0462-004chr4:
151359454-151359454
TAintronicDe novo--Trost2022 G
LRBA     AU2303301chr4:
151359730-151359730
TTAintronicDe novo--Trost2022 G
LRBA     Li2017:16082chr4:
151392784-151392784
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C6659T
c.C6692T
p.T2220M
p.T2231M
24.28.301E-6Li2017 T
LRBA     1-0272-003chr4:
151592601-151592601
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     PN400219chr4:
151186882-151186882
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C8548T
c.C8584T
p.R2850C
p.R2862C
21.10.0013Leblond2019 E
LRBA     2-1237-004chr4:
151651198-151651198
CCAintronicDe novo--Trost2022 G
LRBA     7-0322-003chr4:
151688378-151688378
TCintronicDe novo--Trost2022 G
LRBA     1-0760-004chr4:
151566370-151566370
GTintronicDe novo--Trost2022 G
LRBA     3-0228-000chr4:
151584396-151584396
GCintronicDe novo--Trost2022 G
LRBA     1-0375-003chr4:
151278776-151278776
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRBA     3-0422-000chr4:
151528334-151528334
TCintronicDe novo--Trost2022 G
LRBA     2-1757-003chr4:
151564349-151564349
TCintronicDe novo--Trost2022 G
LRBA     2-1089-004chr4:
151594432-151594432
TGintronicDe novo--Trost2022 G
Yuen2017 G
LRBA     1026chr4:
151483080-151483080
CTintronicDe novo--Trost2022 G
LRBA     3-0393-000chr4:
151496179-151496179
CTintronicDe novo--Trost2022 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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