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Results for "SMARCC2"

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
SMARCC2     ACGC_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
SMARCC2     ACGC_HEN442.p1chr12:
56566489-56566489		CTsplicingUnknownsplicing19.74-Wang2020 T
SMARCC2     AGRE_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
SMARCC2     1-0232-004chr12:
56565311-56565311		TAintronicDe novo--Yuen2017 G
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
SMARCC2     1-0352-003chr12:
56590622-56590622		CTintergenicDe novo--Yuen2016 G
SMARCC2     200675470@1082034721chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-Satterstrom2020 E
SMARCC2     ACGC_M04463chr12:
56572592-56572592		ATsplicingUnknownsplicing23.0-Wang2020 T
SMARCC2     AGRE_AU2554301chr12:
56575360-56575360		GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067		c.C862T
c.C862T
c.C862T		p.R288X
p.R288X
p.R288X		34.0-Wang2020 T
SMARCC2     Lo2022:14chr12:
56563987-56563987		TAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.A2260T
c.A2353T
c.A2353T		p.S754C
p.S785C
p.S785C		13.262.0E-4Lo2022 T
SMARCC2     AGRE_09C82996chr12:
56575360-56575360		GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067		c.C862T
c.C862T
c.C862T		p.R288X
p.R288X
p.R288X		34.0-Wang2020 T
SMARCC2     Lo2022:13chr12:
56563662-56563662		CTexonicMaternalnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.G2353A
c.G2446A
c.G2446A		p.E785K
p.E816K
p.E816K		26.5-Lo2022 T
SMARCC2     Lo2022:15chr12:
56578708-56578708		AGexonicUnknownnonsynonymous SNVNM_001130420
NM_003075
NM_139067		c.T412C
c.T412C
c.T412C		p.S138P
p.S138P
p.S138P		17.67-Lo2022 T
SMARCC2     M04463chr12:
56572592-56572592		ATsplicingUnknownsplicing23.0-Guo2018 T
Wang2016 T
SMARCC2     Lo2022:12chr12:
56558443-56558443		GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.C3212T
c.C3305T
c.C3305T		p.P1071L
p.P1102L
p.P1102L		17.26-Lo2022 T
SMARCC2     SP0037614chr12:
56581129-56581129		ACintronicDe novo--Fu2022 E
SMARCC2     AU0146301chr12:
56594411-56594411		AGintergenicDe novo--Yuen2017 G
SMARCC2     AU043804chr12:
56566053-56566053		AGintronicDe novo--Yuen2017 G
SMARCC2     09C90312chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-Neale2012 E
O’Roak2014 T
Willsey2013 E
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     SF0108725.p1chr12:
56575376-56575377		GTGexonicframeshift deletionNM_001130420
NM_003075
NM_139067		c.845delA
c.845delA
c.845delA		p.N282fs
p.N282fs
p.N282fs		--Wang2020 T
SMARCC2     1255JS0019chr12:
56566368-56566368		CAsplicingDe novo, Unknownsplicing18.68-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
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     SF0012327.p1chr12:
56559111-56559112		CACexonicframeshift deletionNM_003075
NM_001130420
NM_139067		c.3129delT
c.3222delT
c.3222delT		p.P1043fs
p.P1074fs
p.P1074fs		-4.776E-5Wang2020 T
SMARCC2     1-0352-005chr12:
56590622-56590622		CTintergenicDe novo--Yuen2017 G
SMARCC2     Greenwood_Cms23662achr12:
56567593-56567593		GAexonicUnknownstopgainNM_001130420
NM_003075
NM_139067		c.C1537T
c.C1537T
c.C1537T		p.Q513X
p.Q513X
p.Q513X		37.0-Wang2020 T
SMARCC2     Leuven_381120chr12:
56559111-56559112		CACexonicUnknownframeshift deletionNM_003075
NM_001130420
NM_139067		c.3129delT
c.3222delT
c.3222delT		p.P1043fs
p.P1074fs
p.P1074fs		-4.776E-5Wang2020 T
SMARCC2     Greenwood_Cms23871chr12:
56566264-56566264		GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.C1781T
c.C1874T
c.C1874T		p.A594V
p.A625V
p.A625V		22.0-Wang2020 T
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     SP0083063chr12:
56581084-56581084		GGTATAexonicframeshift insertionNM_001130420
NM_003075
NM_139067		c.117_118insTATA
c.117_118insTATA
c.117_118insTATA		p.Q40fs
p.Q40fs
p.Q40fs		--Antaki2022 GE
SMARCC2     381120chr12:
56559112-56559113		AGGexonicInheritedframeshift deletionNM_003075
NM_001130420
NM_139067		c.3129delT
c.3222delT
c.3222delT		p.P1043fs
p.P1074fs
p.P1074fs		-4.776E-5Stessman2017 T
SMARCC2     AU2554301chr12:
56575360-56575360		GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067		c.C862T
c.C862T
c.C862T		p.R288X
p.R288X
p.R288X		34.0-Stessman2017 T
SMARCC2     SP0012327chr12:
56559111-56559112		CACexonicDe novoframeshift deletionNM_003075
NM_001130420
NM_139067		c.3129delT
c.3222delT
c.3222delT		p.P1043fs
p.P1074fs
p.P1074fs		-4.776E-5Antaki2022 GE
Fu2022 E
SMARCC2     SSC06173chr12:
56558283-56558283		CGexonicDe novosynonymous SNVNM_003075c.G3372Cp.P1124P--Fu2022 E
SMARCC2     SF0041340.p1chr12:
56578705-56578705		GAexonicstopgainNM_001130420
NM_003075
NM_139067		c.C415T
c.C415T
c.C415T		p.R139X
p.R139X
p.R139X		35.0-Wang2020 T
SMARCC2     200675470_1082034721chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-Fu2022 E
SMARCC2     SP0041340chr12:
56578705-56578705		GAexonicDe novostopgainNM_001130420
NM_003075
NM_139067		c.C415T
c.C415T
c.C415T		p.R139X
p.R139X
p.R139X		35.0-Antaki2022 GE
Fu2022 E
SMARCC2     SP0108725chr12:
56575376-56575377		GTGexonicDe novoframeshift deletionNM_001130420
NM_003075
NM_139067		c.845delA
c.845delA
c.845delA		p.N282fs
p.N282fs
p.N282fs		--Antaki2022 GE
Fu2022 E
SMARCC2     12836.p1chr12:
56558283-56558283		CGexonicDe novosynonymous SNVNM_003075c.G3372Cp.P1124P--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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