or
or
Exact

Results for "EBF3"

Variant Events: 20

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
EBF3     14228.p1chr10:
131639146-131639146
CGexonicDe novononsynonymous SNVNM_001005463c.G1496Cp.G499A15.44-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
EBF3     AU2123302chr10:
131761008-131761008
TCintronicDe novo--Yuen2017 G
EBF3     AU3695303chr10:
131778303-131778303
AGintergenicDe novo--Yuen2017 G
EBF3     2-1333-003chr10:
131841508-131841508
CTintergenicDe novo--Yuen2017 G
EBF3     2-1085-003chr10:
131818581-131818581
TCintergenicDe novo--Yuen2017 G
EBF3     2-1359-004chr10:
131733861-131733861
GCintronicDe novo--Yuen2017 G
EBF3     3-0169-000chr10:
131836104-131836104
CAintergenicDe novo--Yuen2016 G
EBF3     AU3861302chr10:
131690247-131690247
CTintronicDe novo--Yuen2017 G
EBF3     Husson2020:370chr10:
131761690-131761690
GAexonicstopgainNM_001005463c.C232Tp.Q78X32.0-Husson2020 E
EBF3     13298.p1chr10:
131799448-131799448
CAintergenicDe novo--Turner2016 G
EBF3     1-0382-003chr10:
131756486-131756486
GAintronicDe novo--Yuen2017 G
EBF3     Mahjani2021:37chr10:
131757198-131757198
CTexonicnonsynonymous SNVNM_001005463c.G485Ap.S162N21.3-Mahjani2021 E
EBF3     3-0661-000chr10:
131638744-131638744
GAintronicDe novo--Yuen2017 G
EBF3     1-0567-003chr10:
131768210-131768210
CTintergenicDe novo--Yuen2017 G
EBF3     2-1276-003chr10:
131660067-131660067
TCintronicDe novo--Yuen2016 G
Yuen2017 G
EBF3     AU3638302chr10:
131836153-131836153
GAintergenicDe novo--Yuen2017 G
EBF3     AU4336301chr10:
131775623-131775623
CAintergenicDe novo--Yuen2017 G
EBF3     AU216Achr10:
131639340-131639340
CTintronicDe novo-6.0E-4Kosmicki2017 E
EBF3     2-1737-003chr10:
131758356-131758356
GAintronicDe novo--Yuen2017 G
EBF3     DEASD_1029_001chr10:
131666090-131666090
CCAexonicDe novostopgainNM_001005463c.840dupTp.D281_G282delinsX--Satterstrom2020 E
Source Variant Information

, -

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
More