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Results for "VPS41"

Variant Events: 44

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
VPS41     7-0330-003chr7:
38947273-38947273
CGintronicDe novo--Trost2022 G
VPS41     REACH000229chr7:
38936818-38936818
TAintronicDe novo--Trost2022 G
VPS41     1-1134-004chr7:
38938676-38938676
ATintronicDe novo--Trost2022 G
VPS41     AU0780301chr7:
38999189-38999189
CAintergenicDe novo--Yuen2017 G
VPS41     3-0447-000chr7:
39008087-39008087
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
VPS41     PN400491chr7:
38807138-38807138
GAexonicUnknownnonsynonymous SNVNM_080631
NM_014396
c.C1171T
c.C1246T
p.R391C
p.R416C
17.080.0026Leblond2019 E
VPS41     PN400305chr7:
38807138-38807138
GAexonicUnknownnonsynonymous SNVNM_080631
NM_014396
c.C1171T
c.C1246T
p.R391C
p.R416C
17.080.0026Leblond2019 E
VPS41     2-1510-003chr7:
38914292-38914292
CAintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     08C77891chr7:
38813704-38813704
AGintronicDe novo-2.488E-5Satterstrom2020 E
Trost2022 G
VPS41     1-0294-003chr7:
38940001-38940001
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
VPS41     XA214chr7:
38782969-38782969
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
VPS41     AU4164301chr7:
38778005-38778005
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     188-03-100416chr7:
38857417-38857417
CAexonicDe novononsynonymous SNVNM_080631
NM_014396
c.G375T
c.G450T
p.K125N
p.K150N
16.95-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
VPS41     AU1742302chr7:
39013343-39013343
TGintergenicDe novo--Yuen2017 G
VPS41     mAGRE4164chr7:
38783140-38783140
GAexonicMaternalstopgainNM_080631
NM_014396
c.C1909T
c.C1984T
p.R637X
p.R662X
39.02.0E-4Cirnigliaro2023 G
VPS41     PN400171chr7:
38807138-38807138
GAexonicUnknownnonsynonymous SNVNM_080631
NM_014396
c.C1171T
c.C1246T
p.R391C
p.R416C
17.080.0026Leblond2019 E
VPS41     mAGRE4162chr7:
38783140-38783140
GAexonicMaternalstopgainNM_080631
NM_014396
c.C1909T
c.C1984T
p.R637X
p.R662X
39.02.0E-4Cirnigliaro2023 G
VPS41     13497.p1chr7:
38765873-38765873
TGexonicMosaic Mat., De novosynonymous SNVNM_080631
NM_014396
c.A2463C
c.A2538C
p.G821G
p.G846G
--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
VPS41     AU3808305chr7:
38783140-38783140
GAexonicPaternalstopgainNM_080631
NM_014396
c.C1909T
c.C1984T
p.R637X
p.R662X
39.02.0E-4Cirnigliaro2023 G
VPS41     AU072504chr7:
39015681-39015681
CAintergenicDe novo--Yuen2017 G
VPS41     AU3808304chr7:
38783140-38783140
GAexonicPaternalstopgainNM_080631
NM_014396
c.C1909T
c.C1984T
p.R637X
p.R662X
39.02.0E-4Cirnigliaro2023 G
VPS41     1-0271-004chr7:
38828114-38828114
CTintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     1-0972-003chr7:
38935646-38935646
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     AU056204chr7:
38806818-38806818
CGintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     2-1185-003chr7:
38945971-38945971
GTintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     mAGRE6236chr7:
38813785-38813785
ATexonicPaternalstopgainNM_080631
NM_014396
c.T867A
c.T942A
p.C289X
p.C314X
33.0-Cirnigliaro2023 G
VPS41     AU4129303chr7:
38813785-38813785
ATexonicPaternalstopgainNM_080631
NM_014396
c.T867A
c.T942A
p.C289X
p.C314X
33.0-Cirnigliaro2023 G
VPS41     mAGRE4753chr7:
38783144-38783144
TGsplicingMaternalsplicing21.4-Cirnigliaro2023 G
VPS41     01C05531chr7:
38798083-38798083
TCsplicingDe novosplicing16.87-Fu2022 E
VPS41     mAGRE4752chr7:
38783144-38783144
TGsplicingMaternalsplicing21.4-Cirnigliaro2023 G
VPS41     4-0008-003chr7:
38815115-38815118
TTCCTintronicDe novo--Trost2022 G
VPS41     PN400108chr7:
38807138-38807138
GAexonicUnknownnonsynonymous SNVNM_080631
NM_014396
c.C1171T
c.C1246T
p.R391C
p.R416C
17.080.0026Leblond2019 E
VPS41     1-1233-003chr7:
38815601-38815601
GCintronicDe novo--Trost2022 G
VPS41     4-0062-003chr7:
38806735-38806735
AATintronicDe novo--Trost2022 G
VPS41     2-1341-003chr7:
38909544-38909544
CAintronicDe novo--Trost2022 G
VPS41     5-0109-003chr7:
38929921-38929921
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     MSSNG00213-003chr7:
38931241-38931241
GAintronicDe novo--Trost2022 G
VPS41     AU2320301chr7:
38904861-38904861
CTintronicDe novo--Trost2022 G
VPS41     2-1341-003chr7:
38909541-38909541
CTintronicDe novo--Trost2022 G
VPS41     2-1338-003chr7:
38890168-38890168
GCintronicDe novo--Trost2022 G
Yuen2017 G
VPS41     1-0753-003chr7:
38849714-38849714
CTintronicDe novo--Trost2022 G
VPS41     5-5040-003chr7:
38876860-38876860
AGintronicDe novo--Trost2022 G
VPS41     MSSNG00443-003chr7:
38817507-38817507
AGintronicDe novo--Trost2022 G
VPS41     1-1112-003chr7:
38840335-38840335
GAintronicDe 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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