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Results for "SCN10A"

Variant Events: 29

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     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     1-0352-005chr3:
38805752-38805752		TCintronicDe novo--Trost2022 G
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--Trost2022 G
Yuen2017 G
SCN10A     1-0075-003chr3:
38795820-38795820		CTintronicDe novo--Trost2022 G
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
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN10A     3B336chr3:
38835190-38835190		CTintronicDe novo--Satterstrom2020 E
Trost2022 G
SCN10A     1-0352-003chr3:
38805752-38805752		TCintronicDe novo--Yuen2016 G
SCN10A     AU005213chr3:
38796279-38796279		GAintronicDe novo--Trost2022 G
Yuen2017 G
SCN10A     1-1202-003chr3:
38816088-38816088		TCintronicDe novo--Trost2022 G
SCN10A     MSSNG00365-003chr3:
38818488-38818488		GAintronicDe novo--Trost2022 G
SCN10A     SP0154479chr3:
38743550-38743550		GAexonicDe novosynonymous SNVNM_001293307
NM_001293306
NM_006514		c.C4143T
c.C4434T
c.C4437T		p.D1381D
p.D1478D
p.D1479D		--Trost2022 G
SCN10A     SP0017214chr3:
38783742-38783742		CGintronicDe novo--Trost2022 G
SCN10A     AU3761302chr3:
38740903-38740903		GAintronicDe novo--Trost2022 G
SCN10A     mAGRE4707chr3:
38743591-38743591		GAexonicPaternalstopgainNM_001293307
NM_001293306
NM_006514		c.C4102T
c.C4393T
c.C4396T		p.Q1368X
p.Q1465X
p.Q1466X		43.07.189E-5Cirnigliaro2023 G
SCN10A     AU1860302chr3:
38739172-38739172		GAexonicPaternalstopgainNM_001293307
NM_001293306
NM_006514		c.C5245T
c.C5536T
c.C5539T		p.R1749X
p.R1846X
p.R1847X		43.02.471E-5Cirnigliaro2023 G
SCN10A     AU1860301chr3:
38739172-38739172		GAexonicPaternalstopgainNM_001293307
NM_001293306
NM_006514		c.C5245T
c.C5536T
c.C5539T		p.R1749X
p.R1846X
p.R1847X		43.02.471E-5Cirnigliaro2023 G
SCN10A     SP0027434chr3:
38740132-38740132		CTintronicDe novo--Fu2022 E
SCN10A     SP0094767chr3:
38739417-38739417		GAexonicDe novononsynonymous SNVNM_001293307
NM_001293306
NM_006514		c.C5000T
c.C5291T
c.C5294T		p.S1667L
p.S1764L
p.S1765L		17.653.295E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SCN10A     111310chr3:
38770146-38770146		AGexonicnonsynonymous SNVNM_001293307
NM_001293306
NM_006514		c.T2233C
c.T2527C
c.T2527C		p.F745L
p.F843L
p.F843L		29.58.24E-6Woodbury-Smith2022 E
SCN10A     SP0022019chr3:
38798486-38798486		CTintronicDe novo-8.538E-6Fu2022 E
Trost2022 G
SCN10A     AU4463303chr3:
38850446-38850446		GTintergenicDe novo--Yuen2017 G
SCN10A     12541.p1chr3:
38739378-38739378		GTexonicnonsynonymous SNVNM_001293307
NM_001293306
NM_006514		c.C5039A
c.C5330A
c.C5333A		p.P1680Q
p.P1777Q
p.P1778Q		21.7-Zhou2022 GE
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
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