or
or
Exact

Results for "VPS54"

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
VPS54     AU3716301chr2:
64139379-64139379
TGintronicDe novo--Yuen2017 G
VPS54     09C84554chr2:
64120568-64120568
CAexonicDe novononsynonymous SNVNM_001005739
NM_016516
c.G2894T
c.G2930T
p.R965M
p.R977M
28.9-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
VPS54     AU3517301chr2:
64175828-64175828
GAintronicDe novo--Yuen2017 G
VPS54     iHART2233chr2:
64144099-64144099
TCsplicingMaternalsplicing13.77-Ruzzo2019 G
VPS54     AU0786305chr2:
64154490-64154490
TCintronicDe novo--Yuen2017 G
VPS54     AU3782302chr2:
64158325-64158325
ACintronicDe novo--Yuen2017 G
VPS54     1-0563-004chr2:
64150311-64150311
GAintronicDe novo--Yuen2017 G
VPS54     1-0564-003chr2:
64164102-64164102
CTintronicDe novo--Yuen2017 G
VPS54     2-1475-003chr2:
64293921-64293921
ATintergenicDe novo--Yuen2017 G
VPS54     05C49685chr2:
64174510-64174510
TCintronicDe novo--Satterstrom2020 E
Source Variant Information

, -

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
More