Variant Results

or

Results for "CUBN"

Variant Events: 56

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

CUBN

mAGRE2310

chr10:
16994388-16994389

GC

G

splicing

Paternal

splicing

-

8.242E-6

Cirnigliaro2023 G

CUBN

mAGRE1652

chr10:
16893284-16893285

CA

C

exonic

Maternal

frameshift deletion

NM_001081

c.9612delT

p.F3204fs

-

8.239E-6

Cirnigliaro2023 G

CUBN

G01-GEA-110-HI

chr10:
17065605-17065605

T

A

intronic

De novo

13.61

-

Satterstrom2020 E
Trost2022 G

CUBN

AU3951302

chr10:
17130561-17130561

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

MSSNG00428-003

chr10:
16909941-16909942

AT

A

intronic

De novo

-

Trost2022 G

CUBN

80001103032

chr10:
16873414-16873414

C

T

exonic

De novo

synonymous SNV

NM_001081

c.G10365A

p.V3455V

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CUBN

2-1467-003

chr10:
16931261-16931261

C

G

intronic

De novo

-

Trost2022 G

CUBN

SP0022582

chr10:
16882437-16882437

C

T

exonic

De novo

stopgain

NM_001081

c.G9924A

p.W3308X

50.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CUBN

3-0261-000

chr10:
16896737-16896737

T

C

intronic

De novo

-

Trost2022 G

CUBN

MT_33.3

chr10:
16898215-16898215

A

G

intronic

De novo

-

Trost2022 G

CUBN

MSSNG00035-003

chr10:
16875546-16875546

A

G

intronic

De novo

-

Trost2022 G

CUBN

3-0089-000

chr10:
16884470-16884470

C

T

intronic

De novo

-

Trost2022 G

CUBN

AU3617302

chr10:
17104762-17104762

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

MT_33.3

chr10:
17018369-17018369

A

T

intronic

De novo

-

Trost2022 G

CUBN

3-0284-000

chr10:
17024456-17024457

AC

TTG

intronic

De novo

-

Trost2022 G

CUBN

10-1129-005

chr10:
17009257-17009257

A

G

intronic

De novo

-

Trost2022 G

CUBN

MSSNG00250-003

chr10:
17015036-17015036

A

G

intronic

De novo

-

Trost2022 G

CUBN

1-0088-003

chr10:
16968551-16968551

G

A

intronic

De novo

-

Trost2022 G

CUBN

AU4467302

chr10:
16873859-16873859

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

MSSNG00016-003

chr10:
17007058-17007058

G

A

intronic

De novo

-

Trost2022 G

CUBN

7-0094-003

chr10:
16944687-16944687

T

G

intronic

De novo

-

Trost2022 G

CUBN

1-0629-003

chr10:
17025271-17025288

CTGTGTGTGTGTGTGTGT

CTGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CUBN

SP0166561

chr10:
16960682-16960683

AT

A

exonic

De novo

frameshift deletion

NM_001081

c.6938delA

p.Y2313fs

-

Trost2022 G

CUBN

2-0286-003

chr10:
17060751-17060753

GCA

CCG

intronic

De novo

-

Trost2022 G

CUBN

7-0332-003

chr10:
17109796-17109796

A

T

intronic

De novo

-

Trost2022 G

CUBN

2-1546-003

chr10:
17056133-17056133

G

GAC

intronic

De novo

-

Trost2022 G

CUBN

2-0286-003

chr10:
17060736-17060741

CATACA

GGTCCGT

intronic

De novo

-

Trost2022 G

CUBN

2-1625-003

chr10:
17046841-17046841

G

T

intronic

De novo

-

Trost2022 G

CUBN

3-0019-000

chr10:
17048325-17048325

T

C

intronic

De novo

-

Trost2022 G

CUBN

MT_33.3

chr10:
17033006-17033006

A

C

intronic

De novo

-

Trost2022 G

CUBN

2-1237-004

chr10:
17036648-17036648

T

C

intronic

De novo

-

Trost2022 G

CUBN

2-1460-003

chr10:
17178724-17178724

C

T

intergenic

De novo

-

Trost2022 G

CUBN

3-0174-000

chr10:
17146896-17146896

C

T

intronic

De novo

-

Trost2022 G

CUBN

1-1112-003

chr10:
17154195-17154195

T

C

intronic

De novo

-

Trost2022 G

CUBN

2-1807-003

chr10:
17114904-17114904

G

T

intronic

De novo

-

Trost2022 G

CUBN

SJD_54.3

chr10:
17121439-17121439

C

T

intronic

De novo

-

Trost2022 G

CUBN

iHART1652

chr10:
16893284-16893285

CA

C

exonic

Maternal

frameshift deletion

NM_001081

c.9612delT

p.F3204fs

-

8.239E-6

Ruzzo2019 G

CUBN

iHART2310

chr10:
16994388-16994389

GC

G

splicing

Paternal

splicing

-

8.242E-6

Ruzzo2019 G

CUBN

111289

chr10:
16946066-16946066

G

C

exonic

nonsynonymous SNV

NM_001081

c.C7961G

p.P2654R

22.9

-

Woodbury-Smith2022 E

CUBN

4894

chr10:
17127755-17127755

G

A

exonic

De novo

stopgain

NM_001081

c.C1951T

p.R651X

41.0

-

Fu2022 E
Trost2022 G

CUBN

1-0150-004

chr10:
16940686-16940686

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

AU4239301

chr10:
16955064-16955064

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

SSC00534

chr10:
16930412-16930412

T

A

intronic

De novo

-

Fu2022 E
Trost2022 G

CUBN

AU4310301

chr10:
17179567-17179567

G

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

1-0162-004

chr10:
17158825-17158825

G

C

intronic

De novo

-

Yuen2017 G

CUBN

1-0388-003

chr10:
17088958-17088958

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

11316.p1

chr10:
16930412-16930412

T

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CUBN

13844.p1

chr10:
17127755-17127755

G

A

exonic

De novo

stopgain

NM_001081

c.C1951T

p.R651X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

CUBN

1-0777-003

chr10:
17156255-17156255

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

10C113318

chr10:
16962087-16962087

C

T

exonic

De novo

synonymous SNV

NM_001081

c.G6696A

p.V2232V

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

CUBN

AU4315302

chr10:
17079732-17079732

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

2-1365-003

chr10:
17156717-17156717

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

SP0052157

chr10:
16982157-16982157

C

T

exonic

De novo

nonsynonymous SNV

NM_001081

c.G5422A

p.V1808M

13.91

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CUBN

1-0232-004

chr10:
17050958-17050958

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUBN

2-1738-003

chr10:
16875304-16875304

C

T

intronic

De novo

-

Yuen2017 G

CUBN

2-1738-003

chr10:
16875409-16875409

G

A

intronic

De novo

-

Trost2022 G
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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