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Results for "Lo2022"

Variant Events: 17

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     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
ARID1B     Lo2022:6chr6:
157525120-157525120		AGexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.A4976G
c.A5015G		p.N1659S
p.N1672S		11.767.0E-4Lo2022 T
ARID1B     Lo2022:5chr6:
157522274-157522274		GAexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.G4507A
c.G4546A		p.V1503I
p.V1516I		16.291.0E-4Lo2022 T
ARID1B     Lo2022:8chr6:
157528049-157528049		GAexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.G5735A
c.G5774A		p.S1912N
p.S1925N		20.2-Lo2022 T
ARID1B     Lo2022:7chr6:
157527680-157527680		GAexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.G5366A
c.G5405A		p.R1789Q
p.R1802Q		10.531.649E-5Lo2022 T
ARID1B     Lo2022:2chr6:
157502199-157502199		ATexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.A3193T
c.A3232T		p.T1065S
p.T1078S		11.552.473E-5Lo2022 T
ARID1B     Lo2022:1chr6:
157405967-157405967		CTexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.C2170T
c.C2209T		p.P724S
p.P737S		22.09.063E-5Lo2022 T
ARID1B     Lo2022:4chr6:
157522073-157522073		GAexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.G4306A
c.G4345A		p.G1436S
p.G1449S		14.739.185E-5Lo2022 T
ARID1B     Lo2022:3chr6:
157517313-157517313		GAexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.G3838A
c.G3877A		p.E1280K
p.E1293K		22.58.239E-6Lo2022 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     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
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
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
SMARCA2     Lo2022:10chr9:
2060973-2060973		GAexonicMaternalnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.G1679A
c.G1679A
c.G1679A
c.G1679A		p.R560K
p.R560K
p.R560K
p.R560K		8.5011.702E-5Lo2022 T
SMARCA2     Lo2022:9chr9:
2039561-2039561		ATexonicUnknownnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.A451T
c.A451T
c.A451T
c.A451T		p.S151C
p.S151C
p.S151C
p.S151C		18.53-Lo2022 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
SMARCA2     Lo2022:11chr9:
2191407-2191407		GAexonicUnknownnonsynonymous SNVNM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070		c.G710A
c.G794A
c.G800A
c.G4508A
c.G4682A
c.G4736A
c.G4736A		p.R237H
p.R265H
p.R267H
p.R1503H
p.R1561H
p.R1579H
p.R1579H		15.744.12E-5Lo2022 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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