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Results for "ZBTB20"

Variant Events: 70

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
ZBTB20     7-0044-003chr3:
114688882-114688882
GAintronicDe novo--Yuen2017 G
ZBTB20     2-1360-003chr3:
114783483-114783483
ACintronicDe novo--Yuen2017 G
ZBTB20     AU034904chr3:
114395599-114395599
TAintronicDe novo--Yuen2017 G
ZBTB20     AU3649305chr3:
114792538-114792540
TAATAAAintronicDe novo--Yuen2017 G
ZBTB20     AU1668302chr3:
114983191-114983191
CTintergenicDe novo--Yuen2017 G
ZBTB20     1-0336-003chr3:
115037042-115037042
GTintergenicDe novo--Yuen2017 G
ZBTB20     09C84847chr3:
114070428-114070428
GTexonicDe novostopgainNM_001164342
NM_001164346
NM_001164347
NM_001164345
NM_001164344
NM_015642
NM_001164343
c.C497A
c.C278A
c.C278A
c.C278A
c.C278A
c.C278A
c.C278A
p.S166X
p.S93X
p.S93X
p.S93X
p.S93X
p.S93X
p.S93X
39.0-Satterstrom2020 E
ZBTB20     1-0006-003chr3:
115279927-115279927
CTintergenicDe novo--Yuen2017 G
ZBTB20     1-0119-004chr3:
115176067-115176067
CTintergenicDe novo--Yuen2017 G
ZBTB20     3-0458-000chr3:
115287622-115287622
TGintergenicDe novo--Yuen2016 G
ZBTB20     AU3912301chr3:
114750004-114750004
TGintronicDe novo--Yuen2017 G
ZBTB20     1-0079-003chr3:
114783255-114783255
GGAATTCAAAintronicDe novo--Yuen2017 G
ZBTB20     2-0210-005chr3:
114428464-114428464
GTintronicDe novo--Yuen2017 G
ZBTB20     1-0440-003chr3:
114914716-114914716
CTintergenicDe novo--Yuen2017 G
ZBTB20     1-0155-003chr3:
114501072-114501081
ATTATATGGTAintronicDe novo--Yuen2017 G
ZBTB20     AU4032307chr3:
114897014-114897014
GTintergenicDe novo--Yuen2017 G
ZBTB20     AU3721301chr3:
114062967-114062967
CAintronicDe novo--Yuen2017 G
ZBTB20     13069.p1chr3:
114563235-114563235
GCintronicDe novo--Turner2016 G
ZBTB20     13023.p1chr3:
114702089-114702089
TGintronicDe novo--Turner2016 G
ZBTB20     1-0385-003chr3:
115015597-115015597
AGintergenicDe novo--Yuen2017 G
ZBTB20     AU4273304chr3:
114322644-114322644
TCintronicDe novo--Yuen2017 G
ZBTB20     AU009903chr3:
114287096-114287096
GAintronicDe novo--Yuen2017 G
ZBTB20     13649.p1chr3:
114554416-114554416
CTintronicDe novo--Turner2016 G
ZBTB20     7-0133-003chr3:
115277220-115277220
AGintergenicDe novo--Yuen2017 G
ZBTB20     13874.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
ZBTB20     AU066206chr3:
114932682-114932682
GAintergenicDe novo--Yuen2017 G
ZBTB20     A19chr3:
115064990-115064990
TGintergenicDe novo--Wu2018 G
ZBTB20     AU4263304chr3:
114448438-114448438
CGintronicDe novo--Yuen2017 G
ZBTB20     1-0332-003chr3:
114050579-114050579
CTUTR3De novo--Yuen2017 G
ZBTB20     1-0973-003chr3:
114703780-114703780
CTintronicDe novo--Yuen2017 G
ZBTB20     1-0935-003chr3:
115229578-115229578
GAintergenicDe novo--Yuen2017 G
ZBTB20     2-1322-003chr3:
115093042-115093042
GGTAintergenicDe novo--Yuen2017 G
ZBTB20     AU2123301chr3:
115217683-115217683
CTintergenicDe novo--Yuen2017 G
ZBTB20     1550-22157chr3:
114462627-114462627
CTsplicingInheritedsplicing--Callaghan2019 G
ZBTB20     7-0001-003chr3:
114431022-114431022
GCintronicDe novo--Yuen2017 G
ZBTB20     AU3371302chr3:
114566842-114566842
CAintronicDe novo--Yuen2017 G
ZBTB20     AU072505chr3:
114603005-114603005
CTintronicDe novo--Yuen2017 G
ZBTB20     1-0294-003chr3:
114140325-114140325
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ZBTB20     5-0015-004chr3:
115180254-115180254
GAintergenicDe novo--Yuen2017 G
ZBTB20     AU012803chr3:
114818348-114818349
ATAintronicDe novo--Yuen2017 G
ZBTB20     AU2381302chr3:
114625755-114625755
CTintronicDe novo--Yuen2017 G
ZBTB20     7-0130-003chr3:
115060784-115060784
AGintergenicDe novo--Yuen2017 G
ZBTB20     A19chr3:
114411672-114411672
CTintronicDe novo--Wu2018 G
ZBTB20     1-0404-003chr3:
115244365-115244365
GAintergenicDe novo--Yuen2017 G
ZBTB20     AU056804chr3:
115151243-115151243
CGintergenicDe novo--Yuen2017 G
ZBTB20     AU3645301chr3:
114313354-114313354
CAintronicDe novo--Yuen2017 G
ZBTB20     2-1342-003chr3:
114853095-114853095
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ZBTB20     2-0210-004chr3:
114428464-114428464
GTintronicDe novo--Yuen2017 G
ZBTB20     1-0985-003chr3:
115340791-115340791
CTintergenicDe novo--Yuen2017 G
ZBTB20     5-0103-003chr3:
114891444-114891444
GAintergenicDe novo--Yuen2017 G
ZBTB20     AU045010chr3:
114145142-114145142
GAintronicDe novo--Yuen2017 G
ZBTB20     1-0526-003chr3:
114572766-114572766
ATintronicDe novo--Yuen2017 G
ZBTB20     2-1117-003chr3:
114515122-114515122
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ZBTB20     2-1086-004chr3:
115334830-115334830
CGintergenicDe novo--Yuen2017 G
ZBTB20     2-1258-003chr3:
115093042-115093042
GGTAintergenicDe novo--Yuen2017 G
ZBTB20     2-1267-003chr3:
114240103-114240103
TAintronicDe novo--Yuen2017 G
ZBTB20     2-1258-003chr3:
114709392-114709392
GAintronicDe novo--Yuen2017 G
ZBTB20     AU2035302chr3:
115227355-115227355
AGintergenicDe novo--Yuen2017 G
ZBTB20     1-0278-003chr3:
115273857-115273857
TCintergenicDe novo--Yuen2016 G
ZBTB20     1-0651-003chr3:
114581158-114581158
AGintronicDe novo--Yuen2017 G
ZBTB20     AU4423303chr3:
114158150-114158150
GAintronicDe novo--Yuen2017 G
ZBTB20     2-1379-003chr3:
114263302-114263305
TTCTTTintronicDe novo--Yuen2017 G
ZBTB20     2-1174-006chr3:
115037047-115037047
GCintergenicDe novo--Yuen2017 G
ZBTB20     2-1174-006chr3:
114949345-114949345
AGintergenicDe novo--Yuen2017 G
ZBTB20     7-0174-003chr3:
114491299-114491299
TGintronicDe novo--Yuen2017 G
ZBTB20     2-1526-003chr3:
115325470-115325470
AGintergenicDe novo--Yuen2017 G
ZBTB20     7-0143-003chr3:
115323959-115323959
GAintergenicDe novo--Yuen2017 G
ZBTB20     5-0074-003chr3:
114823462-114823462
CTintronicDe novo--Yuen2017 G
ZBTB20     AU031403chr3:
114484427-114484427
GAintronicDe novo--Yuen2017 G
ZBTB20     AU3857301chr3:
114736720-114736720
CTintronicDe 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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