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Results for "SMARCA4"

Variant Events: 18

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
SMARCA4     AU4234303chr19:
11084646-11084646		TGintronicDe novo--Yuen2017 G
SMARCA4     Lo2022:17chr19:
11097111-11097111		ATexonicPaternalnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.A602T
c.A602T
c.A602T
c.A602T
c.A602T
c.A602T
c.A602T		p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L		22.64.0E-4Lo2022 T
SMARCA4     NDAR_INVJF959YMH_wes1chr19:
11096936-11096936		CGexonicMosaicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C427G
c.C427G
c.C427G
c.C427G
c.C427G
c.C427G
c.C427G		p.P143A
p.P143A
p.P143A
p.P143A
p.P143A
p.P143A
p.P143A		14.8-Lim2017 E
SMARCA4     GEA378chr19:
11170480-11170480		AGexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849		c.A4597G
c.A4594G
c.A4588G
c.A4585G
c.A4687G
c.A4687G
c.A4783G		p.K1533E
p.K1532E
p.K1530E
p.K1529E
p.K1563E
p.K1563E
p.K1595E		13.46-Fu2022 E
SMARCA4     A170295chr19:
11144499-11144499		GAexonicDe novosynonymous SNVNM_001128849
NM_003072
NM_001128844		c.G3831A
c.G3831A
c.G3831A		p.P1277P
p.P1277P
p.P1277P		-1.753E-5Fu2022 E
SMARCA4     1-0259-005chr19:
11138480-11138480		CTexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T		p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L		32.0-Yuen2017 G
SMARCA4     1026chr19:
11132500-11132500		CTexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T		p.R906C
p.R906C
p.R906C
p.R906C
p.R906C
p.R906C
p.R906C		15.21-Antaki2022 GE
SMARCA4     Hu2022:34chr19:
11105513-11105513		AGexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G		p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D		21.9-Hu2022 T
SMARCA4     MT_22.3chr19:
11101945-11101945		GTexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T		p.K455N
p.K455N
p.K455N
p.K455N
p.K455N
p.K455N
p.K455N		20.2-Antaki2022 GE
SMARCA4     DEASD_0072_001chr19:
11096052-11096052		CTexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C326T
c.C326T
c.C326T
c.C326T
c.C326T
c.C326T
c.C326T		p.P109L
p.P109L
p.P109L
p.P109L
p.P109L
p.P109L
p.P109L		32.08.409E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SMARCA4     DEASD_0150_001chr19:
11097060-11097060		TCexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.T551C
c.T551C
c.T551C
c.T551C
c.T551C
c.T551C
c.T551C		p.I184T
p.I184T
p.I184T
p.I184T
p.I184T
p.I184T
p.I184T		22.8-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SMARCA4     1-0169-003chr19:
11163512-11163512		AGintronicDe novo--Yuen2017 G
SMARCA4     SP0033566chr19:
11150229-11150231		GGTGsplicingInheritedsplicing--Feliciano2019 E
SMARCA4     Mahjani2021:68chr19:
11144847-11144847		CTexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C3823T
c.C3823T
c.C3823T
c.C3823T
c.C3922T
c.C3922T
c.C3922T		p.R1275W
p.R1275W
p.R1275W
p.R1275W
p.R1308W
p.R1308W
p.R1308W		19.3-Mahjani2021 E
SMARCA4     Mahjani2021:61chr19:
11123787-11123787		TGexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G		p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A		27.8-Mahjani2021 E
SMARCA4     G01_GEA530HIchr19:
11145450-11145450		GTintronicDe novo--Fu2022 E
SMARCA4     Lo2022:16chr19:
11094897-11094897		CGexonicPaternalnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C70G
c.C70G
c.C70G
c.C70G
c.C70G
c.C70G
c.C70G		p.P24A
p.P24A
p.P24A
p.P24A
p.P24A
p.P24A
p.P24A		19.73-Lo2022 T
SMARCA4     NP115chr19:
11152025-11152025		CTexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849		c.C4123T
c.C4123T
c.C4114T
c.C4114T
c.C4213T
c.C4213T
c.C4309T		p.R1375W
p.R1375W
p.R1372W
p.R1372W
p.R1405W
p.R1405W
p.R1437W		28.5-Fu2022 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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