Variant Results

or

Results for "SCUBE2"

Variant Events: 15

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

SCUBE2

SJD_49

chr11:
9043479-9043479

C

G

exonic

Paternal

nonsynonymous SNV

NM_001170690
NM_020974

c.G2215C
c.G2707C

p.D739H
p.D903H

29.0

1.649E-5

Toma2013 E

SCUBE2

3-0402-000

chr11:
9111335-9111335

C

T

exonic

De novo

nonsynonymous SNV

NM_001170690
NM_020974

c.G175A
c.G175A

p.D59N
p.D59N

12.93

4.119E-5

Tammimies2015 E
Trost2022 G
Zhou2022 GE

SCUBE2

5-0083-003

chr11:
9055946-9055946

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SCUBE2

REACH000540

chr11:
9060238-9060238

A

T

intronic

De novo

-

Trost2022 G

SCUBE2

SP0125546

chr11:
9069045-9069070

CGTGCGGATGGCTTTACGGAGCCGCT

TA

exonic

nonframeshift substitution

NM_001170690
NM_020974

c.1370_1395TA
c.1835_1860TA

N/A
N/A

-

Zhou2022 GE

SCUBE2

11421.p1

chr11:
9072167-9072167

C

T

exonic

De novo

nonsynonymous SNV

NM_020974

c.G1625A

p.R542Q

13.58

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SCUBE2

7-0314-003A

chr11:
9112041-9112041

T

TA

intronic

De novo

-

Trost2022 G

SCUBE2

7-0392-003

chr11:
9070433-9070433

C

T

intronic

De novo

-

Trost2022 G

SCUBE2

MSSNG00100-003

chr11:
9086799-9086799

G

A

intronic

De novo

-

Trost2022 G

SCUBE2

13506.p1

chr11:
9111272-9111272

C

A

exonic

De novo

stopgain

NM_001170690
NM_020974

c.G238T
c.G238T

p.E80X
p.E80X

37.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

SCUBE2

SP0053359

chr11:
9112925-9112925

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

SCUBE2

Uddin2014:4

chr11:
9111272-9111272

C

A

exonic

De novo

stopgain

NM_001170690
NM_020974

c.G238T
c.G238T

p.E80X
p.E80X

37.0

-

Uddin2014 E

SCUBE2

SP0046784

chr11:
9055103-9055103

T

G

intronic

De novo

-

Fu2022 E

SCUBE2

SSC08194

chr11:
9111272-9111272

C

A

exonic

De novo

stopgain

NM_001170690
NM_020974

c.G238T
c.G238T

p.E80X
p.E80X

37.0

-

Fu2022 E
Lim2017 E
Trost2022 G

SCUBE2

SSC02463

chr11:
9072167-9072167

C

T

exonic

De novo

nonsynonymous SNV

NM_020974

c.G1625A

p.R542Q

13.58

-

Fu2022 E
Lim2017 E
Trost2022 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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