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Results for "EBF1"

Variant Events: 26

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--Yuen2017 G
EBF1     1-0201-004chr5:
158461881-158461881
CTintronicDe novo--Yuen2017 G
EBF1     2-1620-003chr5:
158526258-158526258
CAintronicDe novo--Yuen2017 G
EBF1     AU2437302chr5:
158312778-158312778
CGintronicDe novo--Yuen2017 G
EBF1     1-0514-003chr5:
158188370-158188370
CTintronicDe novo--Yuen2016 G
Yuen2017 G
EBF1     AU2437302chr5:
158313181-158313181
GAintronicDe novo--Yuen2017 G
EBF1     1-0358-003chr5:
158200312-158200312
CAintronicDe novo--Yuen2017 G
EBF1     1-0882-003chr5:
158320376-158320376
GAintronicDe novo--Yuen2017 G
EBF1     AU4013303chr5:
158390925-158390925
CGintronicDe novo--Yuen2017 G
EBF1     AU3905301chr5:
158322596-158322596
CTintronicDe novo--Yuen2017 G
EBF1     AU3889305chr5:
158463173-158463173
TAintronicDe novo--Yuen2017 G
EBF1     5-0025-003chr5:
158123863-158123868
TTAAGGTUTR3De novo--Yuen2017 G
EBF1     12834.p1chr5:
158415421-158415421
ATintronicUnknown--Werling2018 G
EBF1     1-0336-003chr5:
158191556-158191556
GAintronicDe novo--Yuen2017 G
EBF1     AU3913301chr5:
158332545-158332545
TCintronicDe novo--Yuen2017 G
EBF1     EGAN00001101247chr5:
158267145-158267145
AAGCATTintronicDe novo--Satterstrom2020 E
EBF1     AU3900301chr5:
158484905-158484905
AGintronicDe novo--Yuen2017 G
EBF1     1-0675-003chr5:
158263549-158263555
GAAAAAAGAAAAAAAintronicDe novo--Yuen2017 G
EBF1     2-1417-003chr5:
158145161-158145161
CGintronicDe novo--Yuen2017 G
EBF1     3-0209-000chr5:
158300868-158300868
GAintronicDe novo--Yuen2017 G
EBF1     7-0254-003chr5:
158443594-158443594
GAintronicDe novo--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
EBF1     AU2756306chr5:
158140828-158140828
GCintronicDe novo--Yuen2017 G
EBF1     AU4211304chr5:
158492429-158492429
ATintronicDe novo--Yuen2017 G
EBF1     5-0025-004chr5:
158123863-158123868
TTAAGGTUTR3De 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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