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Results for "SMARCC2"

Variant Events: 22

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
SMARCC2     AU1188303chr12:
56566407-56566407
GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.C1732T
c.C1825T
c.C1825T
p.R578C
p.R609C
p.R609C
18.191.647E-5Wang2020 T
Wang2020 T
SMARCC2     HEN0004.p1chr12:
56565666-56565666
CTexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.G1889A
c.G1982A
c.G1982A
p.R630H
p.R661H
p.R661H
27.0-Wang2020 T
Wang2020 T
SMARCC2     AU0146301chr12:
56594411-56594411
AGintergenicDe novo--Yuen2017 G
SMARCC2     AU043804chr12:
56566053-56566053
AGintronicDe novo--Yuen2017 G
SMARCC2     HEN442.p1chr12:
56566489-56566489
CTsplicingUnknownsplicing19.74-Wang2020 T
Wang2020 T
SMARCC2     1-0232-004chr12:
56565311-56565311
TAintronicDe novo--Yuen2017 G
SMARCC2     09C90312chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-Neale2012 E
O’Roak2014 T
Willsey2013 E
SMARCC2     09C82996chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Stessman2017 T
Wang2020 T
Wang2020 T
SMARCC2     iHART2948chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Ruzzo2019 G
SMARCC2     1255JS0019chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SMARCC2     1-0352-003chr12:
56590622-56590622
CTintergenicDe novo--Yuen2016 G
SMARCC2     iHART2949chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Ruzzo2019 G
SMARCC2     1-0352-005chr12:
56590622-56590622
CTintergenicDe novo--Yuen2017 G
SMARCC2     200675470@1082034721chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-Satterstrom2020 E
SMARCC2     1-0099-003chr12:
56567575-56567575
GAexonicDe novostopgainNM_001130420
NM_003075
NM_139067
c.C1555T
c.C1555T
c.C1555T
p.R519X
p.R519X
p.R519X
38.0-Wang2020 T
Yuen2017 G
SMARCC2     SF0012327.p1chr12:
56559111-56559112
CACexonicDe novoframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Wang2020 T
SMARCC2     SF0041340.p1chr12:
56578705-56578705
GAexonicDe novostopgainNM_001130420
NM_003075
NM_139067
c.C415T
c.C415T
c.C415T
p.R139X
p.R139X
p.R139X
35.0-Wang2020 T
SMARCC2     381120 Complex Event; expand row to view variants  Inherited, Unknownframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
SMARCC2     SF0108725.p1chr12:
56575376-56575377
GTGexonicDe novoframeshift deletionNM_001130420
NM_003075
NM_139067
c.845delA
c.845delA
c.845delA
p.N282fs
p.N282fs
p.N282fs
--Wang2020 T
SMARCC2     AU2554301chr12:
56575360-56575360
GAexonicPaternal, UnknownstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
SMARCC2     12836.p1chr12:
56558283-56558283
CGexonicDe novosynonymous SNVNM_003075c.G3372Cp.P1124P--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SMARCC2     M04463chr12:
56572592-56572592
ATsplicingUnknownsplicing23.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
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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