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Results for "TROVE2"

Variant Events: 4

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
TROVE2     7-0129-003chr1:
193050580-193050580
CTexonicDe novosynonymous SNVNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600
c.C1173T
c.C1173T
c.C1173T
c.C1173T
c.C1173T
p.N391N
p.N391N
p.N391N
p.N391N
p.N391N
-1.663E-5Yuen2017 G
TROVE2     12826.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600
NM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600
c.757_760del
c.757_760del
c.757_760del
c.757_760del
c.757_760del
c.758_761del
c.758_761del
c.758_761del
c.758_761del
c.758_761del
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
TROVE2     2-1644-004chr1:
193050664-193050669
AAAACTAintronicDe novo--Yuen2017 G
TROVE2     Li2017:19723chr1:
193038630-193038630
GAexonicUnknownnonsynonymous SNVNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600
c.G446A
c.G446A
c.G446A
c.G446A
c.G446A
p.R149Q
p.R149Q
p.R149Q
p.R149Q
p.R149Q
33.03.312E-5Li2017 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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