Variant Results

or

Results for "SPAST"

Variant Events: 30

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

SPAST

3-0436-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2016 G
Yuen2017 G

SPAST

Stessman2017:ASD_1151

chr2:
32312567-32312571

AGAAG

G

exonic

Inherited

frameshift deletion

NM_014946
NM_199436

c.422_425del
c.422_425del

p.Q141fs
p.Q141fs

-

Stessman2017 T

SPAST

09C88948

chr2:
32362027-32362027

A

G

exonic

Unknown

nonsynonymous SNV

NM_199436
NM_014946

c.A1307G
c.A1403G

p.E436G
p.E468G

26.6

-

Stessman2017 T

SPAST

7-0078-003

chr2:
32351024-32351024

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPAST

AU3052301

chr2:
32306677-32306677

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPAST

1-0465-003

chr2:
32373432-32373432

A

G

intronic

De novo

-

Yuen2017 G

SPAST

HEN0249.p1

chr2:
32362255-32362259

CAGGT

C

exonic

Paternal

frameshift deletion

NM_199436
NM_014946

c.1396_1397del
c.1492_1493del

p.R466fs
p.R498fs

-

Guo2018 T

SPAST

AU018604

chr2:
32314614-32314614

C

T

exonic

Unknown

nonsynonymous SNV

NM_014946
NM_199436

c.C526T
c.C526T

p.R176C
p.R176C

26.1

6.644E-5

Stessman2017 T

SPAST

11025.p1

chr2:
32314698-32314698

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

SPAST

12611.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_199436
NM_014946

c.657dupA
c.753dupA

p.T219fs
p.T251fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SPAST

AU4433301

chr2:
32304522-32304522

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPAST

C209003

chr2:
32379455-32379455

C

T

exonic

De novo

stopgain

NM_199436
NM_014946

c.C1645T
c.C1741T

p.R549X
p.R581X

36.0

8.284E-6

Fu2022 E

SPAST

G01-GEA-193-HI

chr2:
32314697-32314697

A

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SPAST

7-0342-005

chr2:
32290540-32290540

G

A

intronic

De novo

-

Trost2022 G

SPAST

1-0695-003

chr2:
32288067-32288067

C

T

upstream

De novo

-

Trost2022 G

SPAST

MSSNG00334-003

chr2:
32298273-32298274

TA

T

intronic

De novo

-

Trost2022 G

SPAST

1-0618-003

chr2:
32292078-32292078

T

C

intronic

De novo

-

Trost2022 G

SPAST

SMHC01807s000

chr2:
32340883-32340883

T

C

exonic

De novo

nonsynonymous SNV

NM_199436
NM_014946

c.T887C
c.T983C

p.I296T
p.I328T

21.0

-

Yuan2023 E

SPAST

Wang2023:97

chr2:
32289181-32289181

G

T

exonic

De novo

nonsynonymous SNV

NM_014946
NM_199436

c.G281T
c.G281T

p.G94V
p.G94V

5.272

-

Wang2023 E

SPAST

SSC05199

chr2:
32339776-32339776

C

CA

exonic

De novo

frameshift insertion

NM_199436
NM_014946

c.657dupA
c.753dupA

p.T219fs
p.T251fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

SPAST

REACH000222

chr2:
32365868-32365868

A

T

intronic

De novo

-

Trost2022 G

SPAST

1-0465-003a

chr2:
32373432-32373432

A

G

intronic

De novo

-

Yuen2017 G

SPAST

AU2193301

chr2:
32351449-32351449

A

G

intronic

De novo

-

Trost2022 G

SPAST

1-0465-003A

chr2:
32373432-32373432

A

G

intronic

De novo

-

Trost2022 G

SPAST

MSSNG00037-004A

chr2:
32332531-32332531

A

T

intronic

De novo

-

Trost2022 G

SPAST

2-1509-003

chr2:
32312959-32312959

T

C

intronic

De novo

-

Trost2022 G

SPAST

A31

chr2:
32370665-32370665

C

T

intronic

De novo

-

Wu2018 G

SPAST

MSSNG00037-004A

chr2:
32340134-32340134

C

T

intronic

De novo

-

Trost2022 G

SPAST

AU2461301

chr2:
32334656-32334656

C

CT

intronic

De novo

-

Trost2022 G

SPAST

09C98906

chr2:
32361662-32361663

CT

C

exonic

De novo

frameshift deletion

NM_199436
NM_014946

c.1181delT
c.1277delT

p.L394fs
p.L426fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Willsey2013 E
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
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