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Results for "EBF1"

Variant Events: 45

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
EBF1     2-1381-003chr5:
158473725-158473725
GAintronicDe novo--Yuen2017 G
EBF1     2-1632-003chr5:
158156533-158156533
CTintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     1-0201-004chr5:
158461881-158461881
CTintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     2-1620-003chr5:
158526258-158526258
CAintronicDe novo--Yuen2017 G
EBF1     AU2437302chr5:
158312778-158312778
CGintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     1-0514-003chr5:
158188370-158188370
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EBF1     AU2437302chr5:
158313181-158313181
GAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     1-0358-003chr5:
158200312-158200312
CAintronicDe novo--Yuen2017 G
EBF1     1-0882-003chr5:
158320376-158320376
GAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     AU4013303chr5:
158390925-158390925
CGintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     mAGRE4393chr5:
158500419-158500419
GAexonicDe novononsynonymous SNVNM_001290360
NM_024007
c.C539T
c.C539T
p.P180L
p.P180L
19.27-Cirnigliaro2023 G
EBF1     AU3905301chr5:
158322596-158322596
CTintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     AU3889305chr5:
158463173-158463173
TAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     SP0055667chr5:
158223429-158223429
GAexonicDe novononsynonymous SNVNM_182708
NM_001290360
NM_024007
c.C740T
c.C836T
c.C833T
p.A247V
p.A279V
p.A278V
35.01.651E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EBF1     5-0025-003chr5:
158123863-158123868
TTAAGGTUTR3De novo--Trost2022 G
Yuen2017 G
EBF1     12834.p1chr5:
158415421-158415421
ATintronicUnknown--Werling2018 G
EBF1     1-0336-003chr5:
158191556-158191556
GAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     AU3913301chr5:
158332545-158332545
TCintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     EGAN00001101247chr5:
158267145-158267145
AAGCATTintronicDe novo--Satterstrom2020 E
Trost2022 G
EBF1     2-0272-004chr5:
158126251-158126253
ATGTTAintronicDe novo--Trost2022 G
EBF1     AU3900301chr5:
158484905-158484905
AGintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     1-0675-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EBF1     2-1417-003chr5:
158145161-158145161
CGintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     3-0209-000chr5:
158300868-158300868
GAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     7-0254-003chr5:
158443594-158443594
GAintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     AU070007chr5:
158140034-158140034
GTexonicDe novostopgainNM_182708
NM_001290360
NM_024007
c.C1220A
c.C1316A
c.C1313A
p.S407X
p.S439X
p.S438X
39.0-Yuen2017 G
Zhou2022 GE
EBF1     AU2756306chr5:
158140828-158140828
GCintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     1-0616-003chr5:
158260217-158260217
GCintronicDe novo--Trost2022 G
EBF1     5-0076-003chr5:
158307999-158307999
TCintronicDe novo--Trost2022 G
EBF1     AU004403chr5:
158184288-158184288
TCintronicDe novo--Trost2022 G
EBF1     AU4211304chr5:
158492429-158492429
ATintronicDe novo--Trost2022 G
Yuen2017 G
EBF1     MSSNG00111-003chr5:
158239489-158239496
AAGGACCCAintronicDe novo--Trost2022 G
EBF1     AU004403chr5:
158166006-158166006
TCintronicDe novo--Trost2022 G
EBF1     P6Q4Z_01chr5:
158182638-158182638
CTintronicDe novo--Trost2022 G
EBF1     7-0394-003chr5:
158130372-158130382
CATATGACATTCintronicDe novo--Trost2022 G
EBF1     5-0025-004chr5:
158123863-158123868
TTAAGGTUTR3De novo--Trost2022 G
Yuen2017 G
EBF1     4-0010-003chr5:
158158840-158158840
TCAintronicDe novo--Trost2022 G
EBF1     SP0218853chr5:
158511650-158511650
GAintronicDe novo-3.723E-5Trost2022 G
EBF1     4-0092-003chr5:
158523661-158523661
GCintronicDe novo--Trost2022 G
EBF1     MSSNG00445-003chr5:
158424837-158424837
GAintronicDe novo--Trost2022 G
EBF1     7-0258-004chr5:
158458955-158458955
CTintronicDe novo--Trost2022 G
EBF1     REACH000154chr5:
158337006-158337006
GAintronicDe novo--Trost2022 G
EBF1     MSSNG00346-004chr5:
158403269-158403269
TCintronicDe novo--Trost2022 G
EBF1     7-0143-004chr5:
158308882-158308882
GTintronicDe novo--Trost2022 G
EBF1     AU4239301chr5:
158329764-158329765
CACintronicDe 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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