Variant Results

or

Results for "SCN4A"

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

SCN4A

NDAR_INVFF921HTH_wes1

chr17:
62018938-62018938

G

A

exonic

De novo

synonymous SNV

NM_000334

c.C4704T

p.C1568C

-

9.953E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SCN4A

13646.p1

chr17:
62049125-62049125

G

A

exonic

De novo

nonsynonymous SNV

NM_000334

c.C568T

p.R190W

19.76

1.273E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

SCN4A

SP0131767

chr17:
62024564-62024564

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

SCN4A

10C111561

chr17:
62034528-62034528

A

T

exonic

De novo

nonsynonymous SNV

NM_000334

c.T2370A

p.N790K

16.63

-

Lim2017 E

SCN4A

SP0149908

chr17:
62020116-62020116

C

T

intronic

De novo

-

Fu2022 E

SCN4A

Viggiano2022:22.3

chr17:
62022812-62022812

C

T

exonic

Paternal

nonsynonymous SNV

NM_000334

c.G3628A

p.E1210K

13.43

2.483E-5

Viggiano2022 GT

SCN4A

SP0225240

chr17:
62019186-62019186

C

T

exonic

De novo

nonsynonymous SNV

NM_000334

c.G4456A

p.G1486S

25.1

-

Trost2022 G

SCN4A

SP0224516

chr17:
62049998-62049998

G

A

exonic

De novo

synonymous SNV

NM_000334

c.C204T

p.Y68Y

-

2.0E-4

Trost2022 G

SCN4A

2-0103-004

chr17:
62018036-62018036

G

C

UTR3

De novo

-

Trost2022 G

SCN4A

Lim2017:37086

chr17:
62029050-62029050

C

T

exonic

De novo

nonsynonymous SNV

NM_000334

c.G2587A

p.G863R

0.56

1.581E-5

Lim2017 E

SCN4A

37086

chr17:
62029050-62029050

C

T

exonic

De novo

nonsynonymous SNV

NM_000334

c.G2587A

p.G863R

0.56

1.581E-5

Fu2022 E
Trost2022 G

SCN4A

SSC08216

chr17:
62049125-62049125

G

A

exonic

De novo

nonsynonymous SNV

NM_000334

c.C568T

p.R190W

19.76

1.273E-5

Fu2022 E
Trost2022 G

SCN4A

AU4150301

chr17:
62060537-62060537

G

T

intergenic

De novo

-

Yuen2017 G

SCN4A

Viggiano2022:22.4

chr17:
62022812-62022812

C

T

exonic

Paternal

nonsynonymous SNV

NM_000334

c.G3628A

p.E1210K

13.43

2.483E-5

Viggiano2022 GT

SCN4A

09C83621

chr17:
62025404-62025404

A

G

exonic

De novo

nonsynonymous SNV

NM_000334

c.T3164C

p.I1055T

21.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SCN4A

14643.p1

chr17:
62029050-62029050

C

T

exonic

De novo

nonsynonymous SNV

NM_000334

c.G2587A

p.G863R

0.56

1.581E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

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
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