Variant Results

or

or

Results for "SPSB1"

Variant Events: 23

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

SPSB1

2-1364-003

chr1:
9415718-9415718

G

A

intronic

De novo

-

-

Yuen2017 G

SPSB1

1-1165-003

chr1:
9357186-9357186

G

A

intronic

De novo

-

-

Trost2022 G

SPSB1

2-0158-003

chr1:
9416259-9416259

G

A

exonic

De novo

synonymous SNV

NM_025106

c.G309A

p.T103T

-

Yuen2017 G

SPSB1

REACH000643

chr1:
9367925-9367925

G

A

intronic

De novo

-

-

Trost2022 G

SPSB1

3-0193-000

chr1:
9358606-9358606

G

A

intronic

De novo

-

-

Trost2022 G

SPSB1

1-0285-003

chr1:
9436294-9436294

C

A

intergenic

De novo

-

-

Yuen2017 G

SPSB1

AU011604

chr1:
9412310-9412310

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

AU024105

chr1:
9408072-9408072

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

AU1987302

chr1:
9384482-9384482

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

1-0683-003

chr1:
9428807-9428807

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

1-0481-003

chr1:
9417099-9417100

AG

GTGAATGGATGGA

intronic

De novo

-

-

Trost2022 G

SPSB1

1-0627-005

chr1:
9460451-9460451

C

T

intergenic

De novo

-

-

Yuen2017 G

SPSB1

AU4211304

chr1:
9452578-9452578

G

A

intergenic

De novo

-

-

Yuen2017 G

SPSB1

1-0340-004

chr1:
9388764-9388764

G

A

intronic

De novo

-

-

Trost2022 G

SPSB1

SSC03637

chr1:
9427536-9427536

C

T

exonic

De novo

nonsynonymous SNV

NM_025106

c.C724T

p.R242C

24.4

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

SPSB1

2-1086-004

chr1:
9385065-9385065

G

C

intronic

De novo

-

-

Trost2022 G

SPSB1

11963.p1

chr1:
9427536-9427536

C

T

exonic

De novo

nonsynonymous SNV

NM_025106

c.C724T

p.R242C

24.4

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

SPSB1

1-0006-004

chr1:
9414590-9414590

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

1-0481-003

chr1:
9417088-9417088

G

GTGAA

intronic

De novo

-

-

Trost2022 G

SPSB1

REACH000249

chr1:
9402413-9402413

A

G

intronic

De novo

-

-

Trost2022 G

SPSB1

1-0914-003

chr1:
9422774-9422774

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

2-1237-003

chr1:
9409062-9409062

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPSB1

SP0048142

chr1:
9416202-9416202

G

A

exonic

De novo

synonymous SNV

NM_025106

c.G252A

p.T84T

-

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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