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Results for "ETFB"

Variant Events: 19

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
ETFB     SP0131619chr19:
51850316-51850316
GAintronic--Zhou2022 GE
ETFB     SP0034139chr19:
51857676-51857676
CTexonicDe novononsynonymous SNVNM_001014763c.G217Ap.A73T13.25-Feliciano2019 E
Fu2022 E
Zhou2022 GE
ETFB     AU3875301chr19:
51851769-51851769
AGintronicDe novo--Trost2022 G
Yuen2017 G
ETFB     ASC_CA_02_Achr19:
51869625-51869625
GAUTR5De novo--Satterstrom2020 E
Trost2022 G
ETFB     12752.p1chr19:
51848515-51848515
CAexonicDe novostopgainNM_001014763
NM_001985
c.G991T
c.G718T
p.E331X
p.E240X
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
ETFB     10C105820chr19:
51850237-51850237
TGexonicDe novononsynonymous SNVNM_001014763
NM_001985
c.A787C
c.A514C
p.T263P
p.T172P
23.2-Fu2022 E
ETFB     6249chr19:
51848515-51848515
CAexonicDe novostopgainNM_001014763
NM_001985
c.G991T
c.G718T
p.E331X
p.E240X
35.0-Fu2022 E
ETFB     14535.p1chr19:
51853670-51853670
GAintronicDe novo-2.779E-5Krumm2015 E
ETFB     2-0198-005chr19:
51860488-51860488
TCintronicDe novo--Yuen2017 G
ETFB     2-0300-004chr19:
51860350-51860350
TCintronicDe novo--Yuen2017 G
ETFB     2-1117-003chr19:
51869100-51869100
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ETFB     5101_201chr19:
51857513-51857513
TCexonicDe novononsynonymous SNVNM_001014763
NM_001985
c.A380G
c.A107G
p.H127R
p.H36R
20.2-Lim2017 E
ETFB     1-0133-003chr19:
51861048-51861048
CTintronicDe novo--Trost2022 G
ETFB     PN400285chr19:
51856534-51856534
CTexonicUnknownnonsynonymous SNVNM_001014763
NM_001985
c.G500A
c.G227A
p.R167H
p.R76H
18.142.0E-4Leblond2019 E
ETFB     3-0497-001chr19:
51860893-51860893
AGintronicDe novo--Trost2022 G
ETFB     3-0497-001chr19:
51860888-51860888
TCintronicDe novo--Trost2022 G
ETFB     AU3913303chr19:
51860774-51860774
TCintronicDe novo--Trost2022 G
ETFB     2-0310-004chr19:
51860570-51860575
TGCTCTCACCCGintronicDe novo--Trost2022 G
ETFB     7-0095-003chr19:
51860325-51860326
AATTintronicDe 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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