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Results for "TRIOBP"

Variant Events: 35

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
TRIOBP     SP0046605chr22:
38161768-38161768		GAexonicDe novononsynonymous SNVNM_007032
NM_001039141		c.G1277A
c.G6416A		p.R426H
p.R2139H		21.2-Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
TRIOBP     SP0024272chr22:
38153876-38153876		CTexonicDe novononsynonymous SNVNM_007032
NM_138632
NM_001039141		c.C805T
c.C805T
c.C5944T		p.R269C
p.R269C
p.R1982C		26.0-Fu2022 E
Trost2022 G
Zhou2022 GE
TRIOBP     SP0025807chr22:
38136951-38136951		GAexonicDe novononsynonymous SNVNM_001039141c.G5234Ap.R1745Q25.8-Fu2022 E
Trost2022 G
Zhou2022 GE
TRIOBP     SP0068517chr22:
38121322-38121322		GAexonicDe novononsynonymous SNVNM_001039141c.G2759Ap.R920Q22.38.309E-6Fu2022 E
Trost2022 G
Zhou2022 GE
TRIOBP     1-0488-003chr22:
38114079-38114079		CTintronicDe novo--Trost2022 G
Yuen2017 G
TRIOBP     7-0059-003chr22:
38191340-38191340		GAintergenicDe novo--Yuen2017 G
TRIOBP     SP0140190chr22:
38155474-38155474		TGexonicDe novosynonymous SNVNM_138632c.T1236Gp.S412S--Fu2022 E
TRIOBP     SP0004507chr22:
38165373-38165373		CTexonicDe novosynonymous SNVNM_007032
NM_001039141		c.C1701T
c.C6840T		p.C567C
p.C2280C		-1.386E-5Fu2022 E
Trost2022 G
Zhou2022 GE
TRIOBP     SP0027820chr22:
38161838-38161838		GCintronicDe novo-2.0E-4Fu2022 E
Trost2022 G
TRIOBP     AU3907302chr22:
38166631-38166631		AGintronicDe novo--Trost2022 G
Yuen2017 G
TRIOBP     PN400504chr22:
38129388-38129388		GAexonicUnknownnonsynonymous SNVNM_001039141c.G4031Ap.R1344Q34.00.0032Leblond2019 E
TRIOBP     PN400170chr22:
38129388-38129388		GAexonicUnknownnonsynonymous SNVNM_001039141c.G4031Ap.R1344Q34.00.0032Leblond2019 E
TRIOBP     AU3853302chr22:
38125863-38125863		CTintronicDe novo--Trost2022 G
Yuen2017 G
TRIOBP     3-0209-000 Complex Event; expand row to view variants  De novononsynonymous SNVNM_001039141
NM_001039141		c.T5102G
c.C5101G		p.L1701R
p.L1701V		12.83-Tammimies2015 E
Tammimies2015 E
Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G
Zhou2022 GE
Zhou2022 GE
TRIOBP     2-0285-003chr22:
38114127-38114127		GCintronicDe novo--Yuen2017 G
TRIOBP     1-0233-004chr22:
38133057-38133057		GAintronicDe novo--Yuen2017 G
TRIOBP     1-0551-003chr22:
38184547-38184548		CTCintergenicDe novo--Yuen2017 G
TRIOBP     PN400166chr22:
38129388-38129388		GAexonicUnknownnonsynonymous SNVNM_001039141c.G4031Ap.R1344Q34.00.0032Leblond2019 E
TRIOBP     PN400477chr22:
38165269-38165269		GAexonicUnknownnonsynonymous SNVNM_007032
NM_001039141		c.G1597A
c.G6736A		p.E533K
p.E2246K		32.00.0061Leblond2019 E
TRIOBP     PN400371chr22:
38165269-38165269		GAexonicUnknownnonsynonymous SNVNM_007032
NM_001039141		c.G1597A
c.G6736A		p.E533K
p.E2246K		32.00.0061Leblond2019 E
TRIOBP     PN400584chr22:
38155195-38155195		GAexonicUnknownnonsynonymous SNVNM_007032
NM_138632
NM_001039141		c.G1109A
c.G1109A
c.G6248A		p.R370H
p.R370H
p.R2083H		23.11.0E-4Leblond2019 E
TRIOBP     iHART2292chr22:
38120739-38120739		CTexonicMaternalstopgainNM_001039141c.C2176Tp.R726X38.01.656E-5Ruzzo2019 G
TRIOBP     PN400157chr22:
38153881-38153881		CTexonicDe novosynonymous SNVNM_007032
NM_138632
NM_001039141		c.C810T
c.C810T
c.C5949T		p.S270S
p.S270S
p.S1983S		8.469-Leblond2019 E
TRIOBP     3-0065-000chr22:
38142319-38142342		GGGCGGCGGCGGCGGCGGCGGCGGGGGCGGCGGCGGCGGCGGCGGexonicDe novononframeshift deletionNM_007032
NM_138632		c.96_98del
c.96_98del		p.32_33del
p.32_33del		--Yuen2017 G
TRIOBP     08C74782chr22:
38119272-38119272		CTexonicDe novononsynonymous SNVNM_001039141c.C709Tp.R237W12.557.0E-4Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TRIOBP     7-0346-003chr22:
38163507-38163507		TCintronicDe novo--Trost2022 G
TRIOBP     MSSNG00341-004chr22:
38142980-38142980		TGintronicDe novo--Trost2022 G
TRIOBP     7-0423-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
TRIOBP     SP0028252chr22:
38121374-38121374		CTexonicDe novosynonymous SNVNM_001039141c.C2811Tp.I937I-2.0E-4Trost2022 G
Zhou2022 GE
TRIOBP     1-1148-003chr22:
38114258-38114258		CGintronicDe novo--Trost2022 G
TRIOBP     mAGRE1908chr22:
38134727-38134727		GAsplicingMaternalsplicing17.41-Cirnigliaro2023 G
TRIOBP     12180.p1chr22:
38142319-38142319		GGGGCGGCexonicnonframeshift insertionNM_007032
NM_138632		c.75_76insGGCGGC
c.75_76insGGCGGC		p.R25delinsRGG
p.R25delinsRGG		--Zhou2022 GE
TRIOBP     mAGRE4292chr22:
38120883-38120883		CTexonicPaternalstopgainNM_001039141c.C2320Tp.R774X36.08.281E-6Cirnigliaro2023 G
TRIOBP     2-1790-003chr22:
38121475-38121475		ACexonicDe novononsynonymous SNVNM_001039141c.A2912Cp.N971T8.304-Trost2022 G
Zhou2022 GE
TRIOBP     mAGRE4291chr22:
38120883-38120883		CTexonicPaternalstopgainNM_001039141c.C2320Tp.R774X36.08.281E-6Cirnigliaro2023 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
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