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Results for "SPAST"

Variant Events: 17

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     11025.p1chr2:
32314698-32314698
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SPAST     12611.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_199436
NM_014946
c.657dupA
c.753dupA
p.T219fs
p.T251fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SPAST     AU4433301chr2:
32304522-32304522
GAintronicDe novo--Yuen2017 G
SPAST     C209003chr2:
32379455-32379455
CTexonicDe novostopgainNM_199436
NM_014946
c.C1645T
c.C1741T
p.R549X
p.R581X
36.08.284E-6Fu2022 E
SPAST     3-0436-000 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2016 G
Yuen2017 G
SPAST     G01-GEA-193-HIchr2:
32314697-32314697
ATintronicDe novo--Satterstrom2020 E
SPAST     Stessman2017:ASD_1151chr2:
32312567-32312571
AGAAGGexonicInheritedframeshift deletionNM_014946
NM_199436
c.422_425del
c.422_425del
p.Q141fs
p.Q141fs
--Stessman2017 T
SPAST     09C88948chr2:
32362027-32362027
AGexonicUnknownnonsynonymous SNVNM_199436
NM_014946
c.A1307G
c.A1403G
p.E436G
p.E468G
26.6-Stessman2017 T
SPAST     7-0078-003chr2:
32351024-32351024
CTintronicDe novo--Yuen2017 G
SPAST     SSC05199chr2:
32339776-32339776
CCAexonicDe novoframeshift insertionNM_199436
NM_014946
c.657dupA
c.753dupA
p.T219fs
p.T251fs
--Antaki2022 GE
Fu2022 E
SPAST     1-0465-003achr2:
32373432-32373432
AGintronicDe novo--Yuen2017 G
SPAST     A31chr2:
32370665-32370665
CTintronicDe novo--Wu2018 G
SPAST     AU3052301chr2:
32306677-32306677
ATintronicDe novo--Yuen2017 G
SPAST     1-0465-003chr2:
32373432-32373432
AGintronicDe novo--Yuen2017 G
SPAST     HEN0249.p1chr2:
32362255-32362259
CAGGTCexonicPaternalframeshift deletionNM_199436
NM_014946
c.1396_1397del
c.1492_1493del
p.R466fs
p.R498fs
--Guo2018 T
SPAST     09C98906chr2:
32361662-32361663
CTCexonicDe novoframeshift deletionNM_199436
NM_014946
c.1181delT
c.1277delT
p.L394fs
p.L426fs
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Willsey2013 E
SPAST     AU018604chr2:
32314614-32314614
CTexonicUnknownnonsynonymous SNVNM_014946
NM_199436
c.C526T
c.C526T
p.R176C
p.R176C
26.16.644E-5Stessman2017 T
Source Variant Information

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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 notesView
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