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Results for "BRSK2"

Variant Events: 29

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
BRSK2     AU2075301chr11:
1473817-1473817
GAintronicDe novo--Yuen2017 G
BRSK2     11029.p1chr11:
1466709-1466709
GAintronicDe novo--Krumm2015 E
BRSK2     AU3808305chr11:
1470836-1470836
CTintronicDe novo--Yuen2017 G
BRSK2     13415.p1chr11:
1466811-1466814
GAGAGexonicDe novononframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.989_991del
c.989_991del
c.1127_1129del
c.809_811del
c.989_991del
p.330_331del
p.330_331del
p.376_377del
p.270_271del
p.330_331del
--Dong2014 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
BRSK2     14462.p1chr11:
1466693-1466693
GAintronicDe novo--Satterstrom2020 E
BRSK2     2-1741-003chr11:
1372904-1372904
GCintergenicDe novo--Yuen2017 G
BRSK2     2-1335-004chr11:
1387051-1387054
TGAATintergenicDe novo--Yuen2017 G
BRSK2     7-0249-004chr11:
1346229-1346229
GCintergenicDe novo--Yuen2017 G
BRSK2     346-09-111764chr11:
1464633-1464633
GCexonicDe novosynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.G633C
c.G633C
c.G771C
c.G453C
c.G633C
p.V211V
p.V211V
p.V257V
p.V151V
p.V211V
--Satterstrom2020 E
BRSK2     08C79336chr11:
1471005-1471005
GCsplicingDe novosplicing12.46-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
BRSK2     5-0055-003chr11:
1479315-1479315
GAintronicDe novo--Yuen2017 G
BRSK2     Mahjani2021:116chr11:
1471918-1471918
GGCexonicframeshift insertionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1390dupC
c.1390dupC
c.1528dupC
c.1210dupC
c.1390dupC
p.T463fs
p.T463fs
p.T509fs
p.T403fs
p.T463fs
--Mahjani2021 E
BRSK2     SP0037695chr11:
1472606-1472607
ACAexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1502delC
c.1502delC
c.1640delC
c.1322delC
c.1502delC
p.T501fs
p.T501fs
p.T547fs
p.T441fs
p.T501fs
--Feliciano2019 E
BRSK2     00HI1403Achr11:
1471096-1471096
GAintronicDe novo-2.618E-5Satterstrom2020 E
BRSK2     AU4435301chr11:
1357423-1357423
GAintergenicDe novo--Yuen2017 G
BRSK2     5-0015-004chr11:
1416566-1416566
CAintronicDe novo--Yuen2017 G
BRSK2     SP0042217chr11:
1466523-1466523
GAsplicingDe novosplicing12.1-Feliciano2019 E
BRSK2     Hiatt2019:7chr11:
1471923-1471925
CGTCexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1395_1396del
c.1395_1396del
c.1533_1534del
c.1215_1216del
c.1395_1396del
p.P465fs
p.P465fs
p.P511fs
p.P405fs
p.P465fs
--Hiatt2019 T
BRSK2     Hiatt2019:6chr11:
1471059-1471071
GCCCCCGGGTGAGGexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1281_1287del
c.1281_1287del
c.1419_1425del
c.1101_1107del
c.1281_1287del
p.S427fs
p.S427fs
p.S473fs
p.S367fs
p.S427fs
--Hiatt2019 T
BRSK2     2-1735-003chr11:
1428130-1428136
CTGTGTGCTGintronicDe novo--Yuen2017 G
BRSK2     Hiatt2019:9chr11:
1477839-1477839
CTexonicDe novononsynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.C1861T
c.C1861T
c.C1999T
c.C1681T
c.C1861T
p.R621C
p.R621C
p.R667C
p.R561C
p.R621C
17.43-Hiatt2019 T
BRSK2     Hiatt2019:8chr11:
1472634-1472636
CAGCexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1530_1531del
c.1530_1531del
c.1668_1669del
c.1350_1351del
c.1530_1531del
p.P510fs
p.P510fs
p.P556fs
p.P450fs
p.P510fs
--Hiatt2019 T
BRSK2     Hiatt2019:3chr11:
1463837-1463837
GAsplicingDe novosplicing13.66-Hiatt2019 T
BRSK2     AU4145303chr11:
1456465-1456465
GAintronicDe novo--Yuen2017 G
BRSK2     Hiatt2019:2chr11:
1462017-1462017
GAsplicingDe novosplicing10.3-Hiatt2019 T
BRSK2     Hiatt2019:5chr11:
1464815-1464815
CTexonicDe novostopgainNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.C730T
c.C730T
c.C868T
c.C550T
c.C730T
p.Q244X
p.Q244X
p.Q290X
p.Q184X
p.Q244X
38.0-Hiatt2019 T
BRSK2     Hiatt2019:4chr11:
1464720-1464720
GAexonicDe novononsynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.G635A
c.G635A
c.G773A
c.G455A
c.G635A
p.G212E
p.G212E
p.G258E
p.G152E
p.G212E
22.6-Hiatt2019 T
BRSK2     11729.p1chr11:
1480483-1480483
ACintronicDe novo-2.0E-4Satterstrom2020 E
BRSK2     2-1373-003chr11:
1439708-1439709
CACintronicDe novo--Yuen2017 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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