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Results for "TRIOBP"

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
TRIOBP     2-0285-003chr22:
38114127-38114127
GCintronicDe novo--Yuen2017 G
TRIOBP     1-0233-004chr22:
38133057-38133057
GAintronicDe novo--Yuen2017 G
TRIOBP     1-0488-003chr22:
38114079-38114079
CTintronicDe novo--Yuen2017 G
TRIOBP     1-0551-003chr22:
38184547-38184548
CTCintergenicDe novo--Yuen2017 G
TRIOBP     7-0059-003chr22:
38191340-38191340
GAintergenicDe novo--Yuen2017 G
TRIOBP     AU3907302chr22:
38166631-38166631
AGintronicDe 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     PN400504chr22:
38129388-38129388
GAexonicUnknownnonsynonymous SNVNM_001039141c.G4031Ap.R1344Q34.00.0032Leblond2019 E
TRIOBP     PN400170chr22:
38129388-38129388
GAexonicUnknownnonsynonymous SNVNM_001039141c.G4031Ap.R1344Q34.00.0032Leblond2019 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
TRIOBP     AU3853302chr22:
38125863-38125863
CTintronicDe novo--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
Yuen2017 G
Yuen2017 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
Curation notesView
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