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Results for "VPS8"

Variant Events: 40

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
VPS8     SP0067552chr3:
184682228-184682228
AGintronicDe novo--Fu2022 E
VPS8     SP0016598chr3:
184689441-184689441
CCAexonicDe novoframeshift insertionNM_001009921
NM_015303
c.3322dupA
c.3316dupA
p.T1107fs
p.T1105fs
--Fu2022 E
Trost2022 G
Zhou2022 GE
VPS8     AU3713301chr3:
184688999-184688999
ATintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     AU3839303chr3:
184604784-184604784
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     SMHC01798s000chr3:
184571703-184571703
GAexonicDe novononsynonymous SNVNM_001009921
NM_015303
c.G880A
c.G874A
p.E294K
p.E292K
35.0-Yuan2023 E
VPS8     2-0007-003chr3:
184533103-184533103
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     5-0003-004chr3:
184548008-184548010
TCTAAintronicDe novo--Trost2022 G
VPS8     3-0659-000chr3:
184573131-184573131
AGintronicDe novo--Trost2022 G
VPS8     5-0003-004chr3:
184547998-184548004
AAAAGAGTTintronicDe novo--Trost2022 G
VPS8     5-0003-003chr3:
184548008-184548010
TCTAAintronicDe novo--Trost2022 G
VPS8     5-0003-003chr3:
184547998-184548004
AAAAGAGTTintronicDe novo--Trost2022 G
VPS8     5-5001-003chr3:
184618962-184618962
TCintronicDe novo--Trost2022 G
VPS8     4-0028-003chr3:
184632616-184632616
ACintronicDe novo--Trost2022 G
VPS8     1-0541-004chr3:
184660651-184660651
ATintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     5-5001-003chr3:
184618364-184618364
AGintronicDe novo--Trost2022 G
VPS8     SP0119358chr3:
184618766-184618766
TCintronicDe novo-8.0E-4Trost2022 G
VPS8     MSSNG00428-003chr3:
184603121-184603121
GAintronicDe novo--Trost2022 G
VPS8     5-5001-003chr3:
184617111-184617111
CGintronicDe novo--Trost2022 G
VPS8     REACH000198chr3:
184587756-184587756
CTintronicDe novo--Trost2022 G
VPS8     1-0486-003chr3:
184660430-184660430
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     MSSNG00340-003chr3:
184601764-184601764
TCintronicDe novo--Trost2022 G
VPS8     7-0226-003chr3:
184746398-184746398
GAintronicDe novo--Trost2022 G
VPS8     DEASD_0215_001chr3:
184632833-184632833
AGexonicDe novononsynonymous SNVNM_001009921
NM_015303
c.A2254G
c.A2248G
p.K752E
p.K750E
29.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
VPS8     SP0054675chr3:
184700374-184700374
GAexonicsynonymous SNVNM_001009921
NM_015303
c.G3441A
c.G3435A
p.L1147L
p.L1145L
-1.0E-4Zhou2022 GE
VPS8     REACH000414chr3:
184763295-184763295
AGintronicDe novo--Trost2022 G
VPS8     7-0330-003chr3:
184712063-184712063
GAintronicDe novo--Trost2022 G
VPS8     5-0053-003chr3:
184722677-184722677
GTintronicDe novo--Trost2022 G
VPS8     5-5153-003chr3:
184694381-184694381
GAintronicDe novo--Trost2022 G
VPS8     AU046506chr3:
184697215-184697215
AGintronicDe novo--Trost2022 G
VPS8     MSSNG00039-003chr3:
184659285-184659285
AGintronicDe novo--Trost2022 G
VPS8     3-0835-000chr3:
184672145-184672145
AGintronicDe novo--Trost2022 G
VPS8     5-0117-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
VPS8     1-0551-003chr3:
184715480-184715481
GAGintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     mAGRE3111chr3:
184769776-184769777
AGAexonicMaternalframeshift deletionNM_001009921
NM_015303
c.4251delG
c.4245delG
p.Q1417fs
p.Q1415fs
-3.345E-5Cirnigliaro2023 G
VPS8     mAGRE3110chr3:
184769776-184769777
AGAexonicMaternalframeshift deletionNM_001009921
NM_015303
c.4251delG
c.4245delG
p.Q1417fs
p.Q1415fs
-3.345E-5Cirnigliaro2023 G
VPS8     mAGRE2290chr3:
184769776-184769777
AGAexonicMaternalframeshift deletionNM_001009921
NM_015303
c.4251delG
c.4245delG
p.Q1417fs
p.Q1415fs
-3.345E-5Cirnigliaro2023 G
VPS8     mAGRE5334chr3:
184644379-184644380
CACsplicingPaternalsplicing--Cirnigliaro2023 G
VPS8     AU060403chr3:
184639650-184639650
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     1-0184-003chr3:
184638689-184638689
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS8     AU3794302chr3:
184671598-184671598
TAintronicDe 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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