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Results for "SCN11A"

Variant Events: 20

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     SP0047177chr3:
38913125-38913125
GAexonicDe novosynonymous SNVNM_014139
NM_001287223
c.C3570T
c.C3570T
p.L1190L
p.L1190L
--Feliciano2019 E
SCN11A     AU2433303chr3:
39019232-39019232
TCintergenicDe novo--Yuen2017 G
SCN11A     AU3637301chr3:
39017484-39017484
TCintergenicDe novo--Yuen2017 G
SCN11A     2-1466-003chr3:
38913227-38913227
AGintronicDe novo-1.819E-5Yuen2016 G
Yuen2017 G
SCN11A     iHART2599chr3:
38938474-38938474
CTexonicMaternalstopgainNM_014139
NM_001287223
c.G2265A
c.G2265A
p.W755X
p.W755X
39.01.648E-5Ruzzo2019 G
SCN11A     12137.p1chr3:
38889033-38889033
TAexonicDe novononsynonymous SNVNM_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
SCN11A     12306.p1chr3:
38892193-38892193
TGexonicDe novononsynonymous SNVNM_014139
NM_001287223
c.A4106C
c.A4106C
p.D1369A
p.D1369A
21.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SCN11A     NDAR_INVWJ774DL8_wes1chr3:
38912925-38912925
ATintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
SCN11A     2-1386-003chr3:
38937434-38937434
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SCN11A     2-1235-004chr3:
39031299-39031299
CTintergenicDe novo--Yuen2017 G
SCN11A     AU3801301chr3:
39040103-39040103
GAintergenicDe novo--Yuen2017 G
SCN11A     SSC04895chr3:
38892193-38892193
TGexonicDe novononsynonymous SNVNM_014139
NM_001287223
c.A4106C
c.A4106C
p.D1369A
p.D1369A
21.7-Lim2017 E
SCN11A     7-0024-003chr3:
39014275-39014275
CAintergenicDe novo--Yuen2017 G
SCN11A     AU1355301chr3:
38892855-38892862
GAAAAAAAGAAAAAAintronicDe novo--Yuen2017 G
SCN11A     1-0121-003chr3:
39004352-39004374
AAATAATAATAATAATAATAATAAAATAATAATAATAATAATAintergenicDe novo--Yuen2017 G
SCN11A     1-0339-003chr3:
39076641-39076650
GCAGAAAGAAGintergenicDe novo--Yuen2017 G
SCN11A     2-1334-003chr3:
39074388-39074388
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SCN11A     1-0339-003chr3:
39020558-39020558
AGintergenicDe novo--Yuen2017 G
SCN11A     2-0289-004chr3:
38924027-38924027
GCintronicDe novo--Yuen2017 G
SCN11A     2-0300-003chr3:
39072134-39072134
GAintergenicDe 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 notesView
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