Variant Results

or

Results for "ETFB"

Variant Events: 12

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

SP0034139

chr19:
51857676-51857676

C

T

exonic

De novo

nonsynonymous SNV

NM_001014763

c.G217A

p.A73T

13.25

-

Feliciano2019 E
Fu2022 E

ETFB

AU3875301

chr19:
51851769-51851769

A

G

intronic

De novo

-

Yuen2017 G

ETFB

ASC_CA_02_A

chr19:
51869625-51869625

G

A

UTR5

De novo

-

Satterstrom2020 E

ETFB

12752.p1

chr19:
51848515-51848515

C

A

exonic

De novo

stopgain

NM_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
Wilfert2021 G
Willsey2013 E

ETFB

10C105820

chr19:
51850237-51850237

T

G

exonic

De novo

nonsynonymous SNV

NM_001014763
NM_001985

c.A787C
c.A514C

p.T263P
p.T172P

23.2

-

Fu2022 E

ETFB

6249

chr19:
51848515-51848515

C

A

exonic

De novo

stopgain

NM_001014763
NM_001985

c.G991T
c.G718T

p.E331X
p.E240X

35.0

-

Fu2022 E

ETFB

14535.p1

chr19:
51853670-51853670

G

A

intronic

De novo

-

2.779E-5

Krumm2015 E

ETFB

2-0198-005

chr19:
51860488-51860488

T

C

intronic

De novo

-

Yuen2017 G

ETFB

2-0300-004

chr19:
51860350-51860350

T

C

intronic

De novo

-

Yuen2017 G

ETFB

2-1117-003

chr19:
51869100-51869100

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ETFB

5101_201

chr19:
51857513-51857513

T

C

exonic

De novo

nonsynonymous SNV

NM_001014763
NM_001985

c.A380G
c.A107G

p.H127R
p.H36R

20.2

-

Lim2017 E

ETFB

PN400285

chr19:
51856534-51856534

C

T

exonic

Unknown

nonsynonymous SNV

NM_001014763
NM_001985

c.G500A
c.G227A

p.R167H
p.R76H

18.14

2.0E-4

Leblond2019 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 notes	View
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