Variant Results

or

Results for "BTBD2"

Variant Events: 16

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

BTBD2

SP0028291

chr19:
1987638-1987639

GC

G

exonic

De novo

frameshift deletion

NM_017797

c.1041delG

p.L347fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BTBD2

13627.p1

chr19:
1987195-1987195

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_017797

c.C1239T

p.H413H

-

8.303E-6

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE

BTBD2

SP0024337

chr19:
1987478-1987478

C

T

intronic

De novo

-

7.513E-5

Fu2022 E
Trost2022 G

BTBD2

12682.p1

chr19:
1997374-1997374

C

T

exonic

De novo

nonsynonymous SNV

NM_017797

c.G496A

p.V166M

16.96

-

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

BTBD2

AU005214

chr19:
2013117-2013117

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BTBD2

SP0071781

chr19:
1987578-1987578

G

A

exonic

De novo

nonsynonymous SNV

NM_017797

c.C1102T

p.R368C

21.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BTBD2

PN400118

chr19:
1986885-1986885

T

C

exonic

De novo

nonsynonymous SNV

NM_017797

c.A1360G

p.K454E

7.431

-

Leblond2019 E

BTBD2

AU028A

chr19:
1986556-1986556

G

A

exonic

De novo

synonymous SNV

NM_017797

c.C1509T

p.Y503Y

-

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BTBD2

SSC08531

chr19:
1987195-1987195

G

A

exonic

De novo

synonymous SNV

NM_017797

c.C1239T

p.H413H

-

8.303E-6

Lim2017 E

BTBD2

2-0013-003

chr19:
2031293-2031293

C

G

intergenic

De novo

-

Yuen2017 G

BTBD2

SSC05597

chr19:
1997374-1997374

C

T

exonic

De novo

nonsynonymous SNV

NM_017797

c.G496A

p.V166M

16.96

-

Fu2022 E
Trost2022 G

BTBD2

SP0136652

chr19:
1992980-1992980

G

C

intronic

De novo

-

Trost2022 G

BTBD2

MSSNG00361-004

chr19:
1994683-1994683

G

A

intronic

De novo

-

Trost2022 G

BTBD2

SP0196525

chr19:
1986804-1986804

G

C

intronic

De novo

-

Trost2022 G

BTBD2

SP0111063

chr19:
1987025-1987025

G

A

intronic

De novo

-

Trost2022 G

BTBD2

2-1428-003

chr19:
1996657-1996657

C

T

intronic

De novo

-

Yuen2017 G

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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