Variant Results

or

Results for "MYCBP2"

Variant Events: 61

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

MYCBP2

AU038203

chr13:
77619451-77619451

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

7-0148-003

chr13:
77903101-77903101

C

T

intergenic

De novo

-

Yuen2017 G

MYCBP2

19273-30812

chr13:
77835476-77835476

A

T

exonic

Inherited

nonsynonymous SNV

NM_015057

c.T1682A

p.I561N

19.02

-

Callaghan2019 G

MYCBP2

AU3175303

chr13:
78032229-78032229

A

G

intergenic

De novo

-

Yuen2017 G

MYCBP2

1-1008-003

chr13:
77667310-77667310

T

C

exonic

De novo

nonsynonymous SNV

NM_015057

c.A10357G

p.M3453V

11.92

-

Trost2022 G
Zhou2022 GE

MYCBP2

11194.p1

chr13:
77665355-77665355

T

C

intronic

De novo

-

Turner2016 G

MYCBP2

2-0006-003

chr13:
77668435-77668435

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

5-5064-003

chr13:
77687596-77687596

G

A

intronic

De novo

-

Trost2022 G

MYCBP2

1-0738-003

chr13:
77712899-77712899

G

T

intronic

De novo

-

Trost2022 G

MYCBP2

12099.p1

chr13:
77671659-77671659

C

CT

exonic

frameshift insertion

NM_015057

c.9629dupA

p.K3210fs

-

Zhou2022 GE

MYCBP2

AU3506303

chr13:
77989896-77989896

C

T

intergenic

De novo

-

Yuen2017 G

MYCBP2

1-1160-003

chr13:
77667388-77667388

C

T

exonic

De novo

nonsynonymous SNV

NM_015057

c.G10279A

p.V3427I

21.7

-

Trost2022 G
Zhou2022 GE

MYCBP2

AU2769301

chr13:
77807320-77807320

T

C

exonic

nonsynonymous SNV

NM_015057

c.A2708G

p.Q903R

10.26

-

Zhou2022 GE

MYCBP2

1-0051-004

chr13:
77932857-77932857

G

A

intergenic

De novo

-

Yuen2017 G

MYCBP2

2-0070-003

chr13:
77912183-77912183

G

A

intergenic

De novo

-

Yuen2017 G

MYCBP2

10-1104-004

chr13:
77732088-77732088

C

A

exonic

De novo

nonsynonymous SNV

NM_015057

c.G6754T

p.G2252C

24.1

-

Trost2022 G
Zhou2022 GE

MYCBP2

AU031403

chr13:
77752873-77752873

T

G

intronic

De novo

-

Yuen2017 G

MYCBP2

AU2303301

chr13:
77868160-77868160

T

C

intronic

De novo

-

Trost2022 G

MYCBP2

4-0100-004

chr13:
77879648-77879648

G

A

intronic

De novo

-

Trost2022 G

MYCBP2

1-0141-003

chr13:
77754340-77754340

G

A

exonic

De novo

synonymous SNV

NM_015057

c.C5055T

p.S1685S

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYCBP2

SJD_15.3

chr13:
77826363-77826363

A

G

intronic

De novo

-

Trost2022 G

MYCBP2

2-1514-003

chr13:
77932527-77932527

C

A

intergenic

De novo

-

Yuen2017 G

MYCBP2

MSSNG00224-003

chr13:
77863701-77863701

A

C

intronic

De novo

-

Trost2022 G

MYCBP2

4-0092-003

chr13:
77822746-77822746

T

A

intronic

De novo

-

Trost2022 G

MYCBP2

5-5129-003

chr13:
77823473-77823473

C

T

intronic

De novo

-

Trost2022 G

MYCBP2

5-5159-003

chr13:
77716627-77716627

A

T

intronic

De novo

-

Trost2022 G

MYCBP2

SJD_54.3

chr13:
77775095-77775095

G

A

intronic

De novo

-

Trost2022 G

MYCBP2

1-0485-003

chr13:
78079245-78079245

C

A

intergenic

De novo

-

Yuen2017 G

MYCBP2

2-0319-003

chr13:
77937435-77937435

A

T

intergenic

De novo

-

Yuen2017 G

MYCBP2

AU1795302

chr13:
77747837-77747837

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

612-04-102229

chr13:
77779513-77779513

C

T

exonic

De novo

nonsynonymous SNV

NM_015057

c.G3721A

p.G1241R

16.59

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYCBP2

2-1521-003

chr13:
77893244-77893260

CGTGTGTGTGTGTGTGT

CGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

MYCBP2

AU018010

chr13:
77633060-77633060

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

1-0489-003

chr13:
77831901-77831901

C

T

exonic

De novo

nonsynonymous SNV

NM_015057

c.G2081A

p.C694Y

29.6

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

MYCBP2

2-1174-006

chr13:
77817722-77817722

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

AU3905301

chr13:
77963104-77963104

G

C

intergenic

De novo

-

Yuen2017 G

MYCBP2

2-1408-004

chr13:
77813166-77813166

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

1-0745-003

chr13:
77948383-77948383

T

C

intergenic

De novo

-

Yuen2017 G

MYCBP2

13041.p1

chr13:
77750618-77750631

TCAGTTGAAACTAC

T

splicing

De novo

splicing

-

Wilfert2021 G
Zhou2022 GE

MYCBP2

09C95304

chr13:
77629923-77629923

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MYCBP2

MT_14.3

chr13:
77640216-77640216

G

A

exonic

De novo

stopgain

NM_015057

c.C12463T

p.R4155X

54.0

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

MYCBP2

AU3517301

chr13:
78045974-78045974

T

C

intergenic

De novo

-

Yuen2017 G

MYCBP2

08C76605

chr13:
77807320-77807320

T

C

exonic

De novo

nonsynonymous SNV

NM_015057

c.A2708G

p.Q903R

10.26

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYCBP2

SSC06544

chr13:
77750618-77750631

TCAGTTGAAACTAC

T

splicing

-

Antaki2022 GE

MYCBP2

2-1163-003

chr13:
77907926-77907942

TTCTCTCTCTCTCTCTC

TTCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

MYCBP2

SSC04381

chr13:
77671659-77671659

C

CT

exonic

frameshift insertion

NM_015057

c.9629dupA

p.K3210fs

-

Antaki2022 GE

MYCBP2

AU3801301

chr13:
78030780-78030780

C

G

intergenic

De novo

-

Yuen2017 G

MYCBP2

2-1212-003

chr13:
77743311-77743311

A

G

intronic

De novo

-

Yuen2017 G

MYCBP2

SP0130703

chr13:
77900578-77900578

G

C

intronic

De novo

-

1.067E-5

Fu2022 E
Trost2022 G

MYCBP2

SP0087233

chr13:
77900791-77900791

C

T

exonic

De novo

synonymous SNV

NM_015057

c.G120A

p.P40P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYCBP2

SP0099795

chr13:
77672205-77672205

G

A

exonic

De novo

synonymous SNV

NM_015057

c.C9084T

p.A3028A

61.0

8.268E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

MYCBP2

SP0048845

chr13:
77786304-77786308

TTAAA

T

intronic

De novo

-

Fu2022 E
Trost2022 G

MYCBP2

2-0019-004

chr13:
77646869-77646869

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

SP0008417

chr13:
77664432-77664432

A

C

intronic

De novo

-

Fu2022 E

MYCBP2

SP0187102

chr13:
77799664-77799664

C

G

exonic

De novo

nonsynonymous SNV

NM_015057

c.G2763C

p.K921N

15.36

-

Trost2022 G
Zhou2022 GE

MYCBP2

SP0151004

chr13:
77755918-77755918

A

G

exonic

De novo

nonsynonymous SNV

NM_015057

c.T4859C

p.V1620A

14.3

-

Trost2022 G
Zhou2022 GE

MYCBP2

AU3645301

chr13:
77726359-77726359

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYCBP2

AU079605

chr13:
78040737-78040737

G

A

intergenic

De novo

-

Yuen2017 G

MYCBP2

09C96982

chr13:
77700568-77700568

A

G

exonic

De novo

nonsynonymous SNV

NM_015057

c.T7769C

p.M2590T

8.619

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYCBP2

09C81416

chr13:
77760058-77760058

G

C

exonic

De novo

synonymous SNV

NM_015057

c.C4392G

p.T1464T

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Zhou2022 GE

MYCBP2

SP0032818

chr13:
77825308-77825308

G

A

exonic

De novo

nonsynonymous SNV

NM_015057

c.C2359T

p.R787W

25.3

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

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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