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Results for "SETX"

Variant Events: 12

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
SETX     5-0055-004chr9:
135144432-135144432
CGintronicDe novo--Yuen2017 G
SETX     SSC10271chr9:
135153629-135153629
CTexonicDe novononsynonymous SNVNM_015046c.G6670Ap.G2224S32.08.237E-6Lim2017 E
SETX     iHART3255chr9:
135139698-135139712
CCTGGTGTGATGGGTCexonicMaternalframeshift deletionNM_015046c.7948_7961delp.T2650fs--Ruzzo2019 G
SETX     1-0224-004chr9:
135148543-135148543
TCintronicDe novo--Yuen2017 G
SETX     SSC08881chr9:
135202535-135202535
CTexonicDe novononsynonymous SNVNM_015046c.G4450Ap.E1484K6.973-Lim2017 E
SETX     iHART2502chr9:
135140336-135140336
GAexonicMaternalstopgainNM_015046c.C7324Tp.Q2442X49.0-Ruzzo2019 G
SETX     DEASD_0042_001chr9:
135172298-135172298
GCexonicDe novosynonymous SNVNM_015046c.C5925Gp.G1975G--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SETX     2-0270-004chr9:
135178640-135178640
CAintronicDe novo--Yuen2017 G
SETX     AU2165301chr9:
135188417-135188417
GAintronicDe novo--Yuen2017 G
SETX     14061.p1chr9:
135153629-135153629
CTexonicDe novononsynonymous SNVNM_015046c.G6670Ap.G2224S32.08.237E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
SETX     13758.p1chr9:
135202535-135202535
CTexonicDe novononsynonymous SNVNM_015046c.G4450Ap.E1484K6.973-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SETX     07C71012chr9:
135201741-135201741
GAexonicDe novosynonymous SNVNM_015046c.C5244Tp.F1748F--Satterstrom2020 E
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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