Variant Results

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or

Results for "SCN9A"

Variant Events: 15

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

SCN9A

2-0149-005

chr2:
167204992-167204992

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SCN9A

1-0112-004

chr2:
167212727-167212727

C

CAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SCN9A

1-0394-003

chr2:
167168138-167168138

A

G

exonic

De novo

synonymous SNV

NM_002977

c.T129C

p.D43D

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SCN9A

PN400579

chr2:
167162344-167162344

C

T

exonic

Unknown

nonsynonymous SNV

NM_002977

c.G554A

p.R185H

27.1

Leblond2019 E

SCN9A

AU1223301

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

SCN9A

PN400343

chr2:
167162344-167162344

C

T

exonic

Unknown

nonsynonymous SNV

NM_002977

c.G554A

p.R185H

27.1

Leblond2019 E

SCN9A

PN400515

chr2:
167162344-167162344

C

T

exonic

Unknown

nonsynonymous SNV

NM_002977

c.G554A

p.R185H

27.1

Leblond2019 E

SCN9A

SP0215925

chr2:
167055635-167055635

A

G

exonic

De novo

synonymous SNV

NM_002977

c.T5481C

p.C1827C

-

-

Trost2022 G

SCN9A

7-0354-003

chr2:
167084214-167084214

G

A

exonic

De novo

nonsynonymous SNV

NM_002977

c.C4193T

p.T1398M

0.01

Trost2022 G
Zhou2022 GE

SCN9A

PN400104

chr2:
167162344-167162344

C

T

exonic

Unknown

nonsynonymous SNV

NM_002977

c.G554A

p.R185H

27.1

Leblond2019 E

SCN9A

3-0490-000

chr2:
167192966-167192966

G

T

intronic

De novo

-

-

Trost2022 G

SCN9A

PN400111

chr2:
167162344-167162344

C

T

exonic

Unknown

nonsynonymous SNV

NM_002977

c.G554A

p.R185H

27.1

Leblond2019 E

SCN9A

1-0928-003

chr2:
167205702-167205702

T

A

intronic

De novo

-

-

Trost2022 G

SCN9A

REACH000602

chr2:
167188868-167188868

T

C

intronic

De novo

-

-

Trost2022 G

SCN9A

5-0117-003

chr2:
167187473-167187474

AT

A

intronic

De novo

-

-

Yuen2017 G

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 notes	View
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