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Results for "VPS50"

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
VPS50     AU2988303chr7:
92871106-92871106
ACintronicDe novo--Yuen2017 G
VPS50     2-1346-003chr7:
93029160-93029160
AGintergenicDe novo--Yuen2017 G
VPS50     2-1408-003chr7:
92952445-92952445
TCintronicDe novo--Yuen2017 G
VPS50     AU4168306chr7:
93001835-93001835
GAintergenicDe novo--Yuen2017 G
VPS50     AU2787301chr7:
93007449-93007449
TCintergenicDe novo--Yuen2017 G
VPS50     AU2787302chr7:
93016939-93016939
GAintergenicDe novo--Yuen2017 G
VPS50     12637.p1chr7:
92920979-92920979
AGintronicDe novo--Satterstrom2020 E
VPS50     2-0238-003chr7:
92931478-92931478
GTintronicDe novo--Yuen2017 G
VPS50     2-1480-003chr7:
92963366-92963366
TCintronicDe novo--Yuen2016 G
Yuen2017 G
VPS50     74-0352chr7:
92884393-92884393
AGintronicDe novo--Michaelson2012 G
VPS50     iHART1205chr7:
92926456-92926456
GAsplicingPaternalsplicing21.88.4E-6Ruzzo2019 G
VPS50     11252.p1chr7:
92908635-92908635
CAintronicDe novo--Turner2016 G
VPS50     1-0534-003chr7:
93018289-93018289
CAintergenicDe novo--Yuen2017 G
VPS50     2-1438-003chr7:
92903751-92903751
GCintronicDe novo--Yuen2016 G
Yuen2017 G
VPS50     1-0417-003chr7:
92991150-92991150
AGdownstreamDe novo--Yuen2016 G
Yuen2017 G
VPS50     1-0353-003chr7:
92928537-92928537
ATintronicDe novo--Yuen2017 G
VPS50     AU2988302chr7:
92871106-92871106
ACintronicDe novo--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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