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Results for "VAPB"

Variant Events: 10

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
VAPB     MSSNG00072-003chr20:
57001137-57001137
GAintronicDe novo--Trost2022 G
VAPB     3-0740-000Achr20:
56980632-56980632
CGintronicDe novo--Trost2022 G
VAPB     MSSNG00353-003chr20:
56979775-56979775
GAintronicDe novo--Trost2022 G
VAPB     08C73088chr20:
56964360-56964360
CGUTR5De novo--Satterstrom2020 E
Trost2022 G
VAPB     SJD_65.3chr20:
56965950-56965950
CTintronicDe novo--Trost2022 G
VAPB     2-0045-003chr20:
56968707-56968707
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
VAPB     G01-GEA-145-HIchr20:
57021000-57021000
CTUTR3De novo--Satterstrom2020 E
Trost2022 G
VAPB     REACH000252chr20:
57017784-57017784
GAintronicDe novo--Trost2022 G
VAPB     MSSNG00395-003chr20:
57016708-57016712
TAAACTintronicDe novo--Trost2022 G
VAPB     3-0640-000chr20:
57002566-57002566
AGintronicDe novo--Trost2022 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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