Variant Results

or

Results for "SCN11A"

Variant Events: 39

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

SCN11A

SP0047177

chr3:
38913125-38913125

G

A

exonic

De novo

synonymous SNV

NM_014139
NM_001287223

c.C3570T
c.C3570T

p.L1190L
p.L1190L

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SCN11A

AU2433303

chr3:
39019232-39019232

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

iHART2599

chr3:
38938474-38938474

C

T

exonic

Maternal

stopgain

NM_014139
NM_001287223

c.G2265A
c.G2265A

p.W755X
p.W755X

39.0

1.648E-5

Ruzzo2019 G

SCN11A

12137.p1

chr3:
38889033-38889033

T

A

exonic

De novo

nonsynonymous SNV

NM_014139
NM_001287223

c.A4528T
c.A4528T

p.I1510F
p.I1510F

26.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SCN11A

12306.p1

chr3:
38892193-38892193

T

G

exonic

De novo

nonsynonymous SNV

NM_014139
NM_001287223

c.A4106C
c.A4106C

p.D1369A
p.D1369A

21.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SCN11A

NDAR_INVWJ774DL8_wes1

chr3:
38912925-38912925

A

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

SCN11A

2-1386-003

chr3:
38937434-38937434

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SCN11A

2-1235-004

chr3:
39031299-39031299

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

SSC04895

chr3:
38892193-38892193

T

G

exonic

De novo

nonsynonymous SNV

NM_014139
NM_001287223

c.A4106C
c.A4106C

p.D1369A
p.D1369A

21.7

-

Fu2022 E
Lim2017 E
Trost2022 G

SCN11A

AU1355301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

1-0339-003

chr3:
39076641-39076650

GCAGAAAGAA

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

1-0339-003

chr3:
39020558-39020558

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

AU3637301

chr3:
39017484-39017484

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

SP0203844

chr3:
38938521-38938521

C

T

exonic

De novo

nonsynonymous SNV

NM_014139
NM_001287223

c.G2218A
c.G2218A

p.G740S
p.G740S

10.15

-

Trost2022 G

SCN11A

2-1466-003

chr3:
38913227-38913227

A

G

intronic

De novo

-

1.819E-5

Trost2022 G
Yuen2016 G
Yuen2017 G

SCN11A

5-0119-003

chr3:
38946487-38946487

G

A

intronic

De novo

-

Trost2022 G

SCN11A

AU3801301

chr3:
39040103-39040103

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

7-0024-003

chr3:
39014275-39014275

C

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

12137_p1

chr3:
38889033-38889033

T

A

exonic

De novo

nonsynonymous SNV

NM_014139
NM_001287223

c.A4528T
c.A4528T

p.I1510F
p.I1510F

26.1

-

Fu2022 E

SCN11A

1-0262-003A

chr3:
39036233-39036233

G

A

intergenic

De novo

-

Trost2022 G

SCN11A

REACH000288

chr3:
39037776-39037776

C

CA

intergenic

De novo

-

Trost2022 G

SCN11A

4-0061-003

chr3:
38997126-38997126

C

A

intergenic

De novo

-

Trost2022 G

SCN11A

916_16AU

chr3:
38892247-38892247

G

A

intronic

De novo

-

Fu2022 E

SCN11A

AU079605

chr3:
39025037-39025037

C

T

intergenic

De novo

-

Trost2022 G

SCN11A

7-0361-003

chr3:
38986189-38986189

C

T

intronic

De novo

-

Trost2022 G

SCN11A

4-0061-003

chr3:
38994178-38994178

C

G

intronic

De novo

-

Trost2022 G

SCN11A

1-0121-003

chr3:
39004352-39004374

AAATAATAATAATAATAATAATA

AAATAATAATAATAATAATA

intergenic

De novo

-

Yuen2017 G

SCN11A

2-1334-003

chr3:
39074388-39074388

A

G

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SCN11A

SP0120891

chr3:
38938316-38938316

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

SCN11A

REACH000423

chr3:
38968113-38968113

T

G

intronic

De novo

-

Trost2022 G

SCN11A

1024

chr3:
38970330-38970330

A

C

intronic

De novo

-

Trost2022 G

SCN11A

2-0289-004

chr3:
38924027-38924027

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

10-0001-003

chr3:
39076258-39076258

G

T

intergenic

De novo

-

Trost2022 G

SCN11A

mAGRE2599

chr3:
38938474-38938474

C

T

exonic

Maternal

stopgain

NM_014139
NM_001287223

c.G2265A
c.G2265A

p.W755X
p.W755X

39.0

1.648E-5

Cirnigliaro2023 G

SCN11A

2-0300-003

chr3:
39072134-39072134

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SCN11A

3-0711-000A

chr3:
39045374-39045374

C

T

intergenic

De novo

-

Trost2022 G

SCN11A

mAGRE4912

chr3:
38926829-38926829

C

T

exonic

Paternal

stopgain

NM_014139
NM_001287223

c.G3014A
c.G3014A

p.W1005X
p.W1005X

36.0

2.473E-5

Cirnigliaro2023 G

SCN11A

5-5083-003

chr3:
39060488-39060488

T

C

intergenic

De novo

-

Trost2022 G

SCN11A

AU2458303

chr3:
38921433-38921443

AAACTTACAAT

A

exonic

Maternal

nonframeshift deletion

NM_014139
NM_001287223

c.3391_3393del
c.3391_3393del

p.1131_1131del
p.1131_1131del

-

8.923E-6

Cirnigliaro2023 G

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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