Variant Results

or

Results for "SCUBE3"

Variant Events: 14

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

SCUBE3

iHART2272

chr6:
35182282-35182282

T

G

splicing

Maternal

splicing

16.86

-

Ruzzo2019 G

SCUBE3

72-1397

chr6:
35210840-35210840

G

A

exonic

Inherited

nonsynonymous SNV

NM_001303136
NM_152753

c.G1733A
c.G1736A

p.R578Q
p.R579Q

13.58

5.025E-5

Patowary2019 E

SCUBE3

Cukier2014:17351

chr6:
35212504-35212504

G

A

exonic

Unknown

nonsynonymous SNV

NM_001303136
NM_152753

c.G2314A
c.G2317A

p.D772N
p.D773N

24.4

6.0E-4

Cukier2014 E

SCUBE3

mAGRE5071

chr6:
35213770-35213771

TC

T

exonic

Paternal

frameshift deletion

NM_001303136
NM_152753

c.2647delC
c.2650delC

p.P883fs
p.P884fs

-

Cirnigliaro2023 G

SCUBE3

mAGRE2272

chr6:
35182282-35182282

T

G

splicing

Maternal

splicing

16.86

-

Cirnigliaro2023 G

SCUBE3

REACH000173

chr6:
35205859-35205859

G

A

intronic

De novo

-

Trost2022 G

SCUBE3

AU2156303

chr6:
35206212-35206212

G

A

intronic

De novo

-

Yuen2017 G

SCUBE3

AU2283301

chr6:
35213717-35213717

C

A

intronic

De novo

-

Trost2022 G

SCUBE3

4-0054-003

chr6:
35196956-35196956

C

A

intronic

De novo

-

Trost2022 G

SCUBE3

1-0644-003

chr6:
35202371-35202371

C

T

intronic

De novo

-

Trost2022 G

SCUBE3

5-5021-003

chr6:
35191418-35191418

C

A

intronic

De novo

-

Trost2022 G

SCUBE3

DEASD_0075_001

chr6:
35200730-35200730

C

A

exonic

De novo

synonymous SNV

NM_001303136
NM_152753

c.C570A
c.C573A

p.T190T
p.T191T

-

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

SCUBE3

4-0062-003

chr6:
35213901-35213902

GA

TG

intronic

De novo

-

Trost2022 G

SCUBE3

4-0073-003

chr6:
35213901-35213902

GA

TG

intronic

De novo

-

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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