Variant Results

or

Results for "EBF3"

Variant Events: 37

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

AU2123302

chr10:
131761008-131761008

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

2-1333-003

chr10:
131841508-131841508

C

T

intergenic

De novo

-

Yuen2017 G

EBF3

2-1085-003

chr10:
131818581-131818581

T

C

intergenic

De novo

-

Yuen2017 G

EBF3

14228_p1

chr10:
131639146-131639146

C

G

exonic

De novo

nonsynonymous SNV

NM_001005463

c.G1496C

p.G499A

15.44

-

Fu2022 E

EBF3

Husson2020:370

chr10:
131761690-131761690

G

A

exonic

stopgain

NM_001005463

c.C232T

p.Q78X

32.0

-

Husson2020 E

EBF3

1-0382-003

chr10:
131756486-131756486

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

Mahjani2021:37

chr10:
131757198-131757198

C

T

exonic

nonsynonymous SNV

NM_001005463

c.G485A

p.S162N

21.3

-

Mahjani2021 E

EBF3

3-0661-000

chr10:
131638744-131638744

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

SP0015927

chr10:
131638448-131638448

A

C

intronic

De novo

-

Trost2022 G

EBF3

AU3638302

chr10:
131836153-131836153

G

A

intergenic

De novo

-

Yuen2017 G

EBF3

AU4336301

chr10:
131775623-131775623

C

A

intergenic

De novo

-

Yuen2017 G

EBF3

MSSNG00343-004

chr10:
131674776-131674776

C

T

intronic

De novo

-

Trost2022 G

EBF3

AU216A

chr10:
131639340-131639340

C

T

intronic

De novo

-

6.0E-4

Kosmicki2017 E

EBF3

MT_16.3

chr10:
131633095-131633095

G

A

downstream

De novo

-

Trost2022 G

EBF3

2-1737-003

chr10:
131758356-131758356

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

DEASD_1029_001

chr10:
131666090-131666090

C

CA

exonic

De novo

stopgain

NM_001005463

c.840dupT

p.D281_G282delinsX

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EBF3

REACH000627

chr10:
131634301-131634301

C

T

UTR3

De novo

-

Trost2022 G

EBF3

14228.p1

chr10:
131639146-131639146

C

G

exonic

De novo

nonsynonymous SNV

NM_001005463

c.G1496C

p.G499A

15.44

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EBF3

AU3695303

chr10:
131778303-131778303

A

G

intergenic

De novo

-

Yuen2017 G

EBF3

SP0018165

chr10:
131676031-131676031

C

T

splicing

De novo

splicing

24.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EBF3

SP0224540

chr10:
131760516-131760516

C

T

intronic

De novo

-

Trost2022 G

EBF3

2-1359-004

chr10:
131733861-131733861

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

3-0169-000

chr10:
131836104-131836104

C

A

intergenic

De novo

-

Yuen2016 G

EBF3

SP0037139

chr10:
131757201-131757201

C

T

exonic

De novo

nonsynonymous SNV

NM_001005463

c.G482A

p.C161Y

27.5

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EBF3

AU055603

chr10:
131716816-131716816

C

G

intronic

De novo

-

Trost2022 G

EBF3

SP0063809

chr10:
131641435-131641435

A

T

exonic

De novo

nonsynonymous SNV

NM_001005463

c.T1133A

p.V378E

21.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EBF3

1-1128-003

chr10:
131752817-131752817

C

T

intronic

De novo

-

Trost2022 G

EBF3

1-0700-005A

chr10:
131675017-131675017

T

C

intronic

De novo

-

Trost2022 G

EBF3

SP0121598

chr10:
131757261-131757261

T

C

exonic

De novo

nonsynonymous SNV

NM_001005463

c.A422G

p.Y141C

23.6

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EBF3

3-0261-000

chr10:
131713556-131713557

AC

A

intronic

De novo

-

Trost2022 G

EBF3

SP0227050

chr10:
131640502-131640503

CG

C

exonic

De novo

frameshift deletion

NM_001005463

c.1222delC

p.R408fs

-

Trost2022 G
Zhou2022 GE

EBF3

AU3861302

chr10:
131690247-131690247

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF3

SP0197794

chr10:
131761758-131761758

T

C

exonic

nonsynonymous SNV

NM_001005463

c.A164G

p.E55G

24.5

-

Zhou2022 GE

EBF3

13298.p1

chr10:
131799448-131799448

C

A

intergenic

De novo

-

Turner2016 G

EBF3

1-0567-003

chr10:
131768210-131768210

C

T

intergenic

De novo

-

Yuen2017 G

EBF3

2-1276-003

chr10:
131660067-131660067

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EBF3

08C74272

chr10:
131640519-131640519

C

T

exonic

De novo

synonymous SNV

NM_001005463

c.G1206A

p.A402A

-

8.495E-6

Fu2022 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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