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Results for "SCN10A"

Variant Events: 16

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
SCN10A     1-0208-003chr3:
38855004-38855004
GAintergenicDe novo--Yuen2017 G
SCN10A     3B336chr3:
38835190-38835190
CTintronicDe novo--Satterstrom2020 E
SCN10A     1-0352-003chr3:
38805752-38805752
TCintronicDe novo--Yuen2016 G
SCN10A     74-0450chr3:
38797370-38797370
TCexonicInheritednonsynonymous SNVNM_001293306
NM_001293307
NM_006514
c.A1370G
c.A1370G
c.A1370G
p.E457G
p.E457G
p.E457G
8.4082.0E-4Patowary2019 E
SCN10A     13809.p1chr3:
38770255-38770255
CTexonicMosaicsynonymous SNVNM_001293307
NM_001293306
NM_006514
c.G2124A
c.G2418A
c.G2418A
p.K708K
p.K806K
p.K806K
--Dou2017 E
Krupp2017 E
SCN10A     AU005213chr3:
38796279-38796279
GAintronicDe novo--Yuen2017 G
SCN10A     1-0352-005chr3:
38805752-38805752
TCintronicDe novo--Yuen2017 G
SCN10A     SSC09154chr3:
38770255-38770255
CTexonicDe novosynonymous SNVNM_001293307
NM_001293306
NM_006514
c.G2124A
c.G2418A
c.G2418A
p.K708K
p.K806K
p.K806K
--Lim2017 E
SCN10A     AU4079301chr3:
38879963-38879963
TGintergenicDe novo--Yuen2017 G
SCN10A     iHART2590chr3:
38739172-38739172
GAexonicPaternalstopgainNM_001293307
NM_001293306
NM_006514
c.C5245T
c.C5536T
c.C5539T
p.R1749X
p.R1846X
p.R1847X
43.02.471E-5Ruzzo2019 G
SCN10A     AU3862305chr3:
38834556-38834556
ATintronicDe novo--Yuen2017 G
SCN10A     iHART2591chr3:
38739172-38739172
GAexonicPaternalstopgainNM_001293307
NM_001293306
NM_006514
c.C5245T
c.C5536T
c.C5539T
p.R1749X
p.R1846X
p.R1847X
43.02.471E-5Ruzzo2019 G
SCN10A     2-1348-003chr3:
38792345-38792345
CAintronicDe novo--Yuen2017 G
SCN10A     1-0075-003chr3:
38795820-38795820
CTintronicDe novo--Yuen2017 G
SCN10A     AU4463303chr3:
38850446-38850446
GTintergenicDe novo--Yuen2017 G
SCN10A     SP0041858chr3:
38739181-38739181
TCexonicDe novononsynonymous SNVNM_001293307
NM_001293306
NM_006514
c.A5236G
c.A5527G
c.A5530G
p.T1746A
p.T1843A
p.T1844A
20.4-Feliciano2019 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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