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Results for "SCN3A"

Variant Events: 22

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
SCN3A     2-0109-003chr2:
166012879-166012879
TCintronicDe novo--Yuen2017 G
SCN3A     PN400489chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     12271.p1chr2:
166011075-166011075
CTexonicDe novononsynonymous SNVNM_001081676
NM_001081677
NM_006922
c.G1267A
c.G1267A
c.G1267A
p.V423M
p.V423M
p.V423M
33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
SCN3A     1-0324-003chr2:
166001813-166001813
GTintronicDe novo--Yuen2017 G
SCN3A     1-0441-003chr2:
165951163-165951163
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SCN3A     PN400137chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     1-0530-003chr2:
166084061-166084061
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SCN3A     1-0274-003chr2:
166020891-166020891
AGintronicDe novo-1.652E-5Yuen2017 G
SCN3A     2-1362-004chr2:
166012879-166012879
TCintronicDe novo--Yuen2017 G
SCN3A     PN400312chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     PN400565chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     PN400128chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     1-0274-004chr2:
166020891-166020891
AGintronicDe novo-1.652E-5Yuen2017 G
SCN3A     1-0496-003chr2:
166092540-166092540
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
SCN3A     PN400194chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     PN400417chr2:
166020360-166020360
GAexonicUnknownstopgainNM_001081677c.C646Tp.R216X40.01.682E-5Leblond2019 E
SCN3A     iHART2918chr2:
166027022-166027022
GAexonicPaternalstopgainNM_001081676
NM_001081677
NM_006922
c.C301T
c.C301T
c.C301T
p.R101X
p.R101X
p.R101X
42.0-Ruzzo2019 G
SCN3A     14202.p1chr2:
165987978-165987978
CCTintronicDe novo--Satterstrom2020 E
SCN3A     AU4250301chr2:
166053706-166053712
CATAATACATAintronicDe novo--Yuen2017 G
SCN3A     Lee2020:20chr2:
165946790-165946790
GCexonicnonsynonymous SNVNM_001081676
NM_001081677
NM_006922
c.C5726G
c.C5726G
c.C5873G
p.T1909R
p.T1909R
p.T1958R
9.337-Lee2020 T
SCN3A     150088chr2:
166003327-166003327
GAexonicDe novosynonymous SNVNM_001081676
NM_001081677
NM_006922
c.C1593T
c.C1593T
c.C1593T
p.S531S
p.S531S
p.S531S
-8.238E-6Satterstrom2020 E
SCN3A     1006001chr2:
166020875-166020875
GAintronicDe novo-4.0E-4Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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