Variant Results

or

Results for "SCN3A"

Variant Events: 25

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

2-0109-003

chr2:
166012879-166012879

T

C

intronic

De novo

-

Yuen2017 G

SCN3A

PN400489

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

12271.p1

chr2:
166011075-166011075

C

T

exonic

De novo

nonsynonymous SNV

NM_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

PN400137

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

12271_p1

chr2:
166011075-166011075

C

T

exonic

De novo

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.G1267A
c.G1267A
c.G1267A

p.V423M
p.V423M
p.V423M

33.0

-

Fu2022 E

SCN3A

SP0143782

chr2:
166019092-166019092

T

C

exonic

De novo

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.A941G
c.A941G
c.A941G

p.N314S
p.N314S
p.N314S

13.33

-

Fu2022 E

SCN3A

SP0025471

chr2:
165947801-165947801

C

T

exonic

De novo

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.G4715A
c.G4715A
c.G4862A

p.R1572Q
p.R1572Q
p.R1621Q

23.8

-

Fu2022 E

SCN3A

2-1362-004

chr2:
166012879-166012879

T

C

intronic

De novo

-

Yuen2017 G

SCN3A

PN400565

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

1-0274-004

chr2:
166020891-166020891

A

G

intronic

De novo

-

1.652E-5

Yuen2017 G

SCN3A

PN400417

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

iHART2918

chr2:
166027022-166027022

G

A

exonic

Paternal

stopgain

NM_001081676
NM_001081677
NM_006922

c.C301T
c.C301T
c.C301T

p.R101X
p.R101X
p.R101X

42.0

-

Ruzzo2019 G

SCN3A

14202.p1

chr2:
165987978-165987978

C

CT

intronic

De novo

-

Satterstrom2020 E

SCN3A

AU4250301

chr2:
166053706-166053712

CATAATA

CATA

intronic

De novo

-

Yuen2017 G

SCN3A

Lee2020:20

chr2:
165946790-165946790

G

C

exonic

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.C5726G
c.C5726G
c.C5873G

p.T1909R
p.T1909R
p.T1958R

9.337

-

Lee2020 T

SCN3A

1-0324-003

chr2:
166001813-166001813

G

T

intronic

De novo

-

Yuen2017 G

SCN3A

1-0441-003

chr2:
165951163-165951163

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SCN3A

1-0530-003

chr2:
166084061-166084061

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SCN3A

1-0274-003

chr2:
166020891-166020891

A

G

intronic

De novo

-

1.652E-5

Yuen2017 G

SCN3A

PN400312

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

PN400128

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

1-0496-003

chr2:
166092540-166092540

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SCN3A

PN400194

chr2:
166020360-166020360

G

A

exonic

Unknown

stopgain

NM_001081677

c.C646T

p.R216X

40.0

1.682E-5

Leblond2019 E

SCN3A

150088

chr2:
166003327-166003327

G

A

exonic

De novo

synonymous SNV

NM_001081676
NM_001081677
NM_006922

c.C1593T
c.C1593T
c.C1593T

p.S531S
p.S531S
p.S531S

-

8.238E-6

Fu2022 E
Satterstrom2020 E

SCN3A

1006001

chr2:
166020875-166020875

G

A

intronic

De novo

-

4.0E-4

Satterstrom2020 E

Source Variant Information

, -

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 notes	View
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