Variant Results

or

or

Results for "VPS41"

Variant Events: 22

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

PN400171

chr7:
38807138-38807138

G

A

exonic

Unknown

nonsynonymous SNV

NM_080631
NM_014396

c.C1171T
c.C1246T

p.R391C
p.R416C

17.08

Leblond2019 E

VPS41

13497.p1

chr7:
38765873-38765873

T

G

exonic

Mosaic Mat., De novo

synonymous SNV

NM_080631
NM_014396

c.A2463C
c.A2538C

p.G821G
p.G846G

-

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E

VPS41

AU072504

chr7:
39015681-39015681

C

A

intergenic

De novo

-

-

Yuen2017 G

VPS41

1-0271-004

chr7:
38828114-38828114

C

T

intronic

De novo

-

-

Yuen2017 G

VPS41

1-0972-003

chr7:
38935646-38935646

G

A

intronic

De novo

-

-

Yuen2017 G

VPS41

AU0780301

chr7:
38999189-38999189

C

A

intergenic

De novo

-

-

Yuen2017 G

VPS41

3-0447-000

chr7:
39008087-39008087

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

VPS41

AU056204

chr7:
38806818-38806818

C

G

intronic

De novo

-

-

Yuen2017 G

VPS41

PN400491

chr7:
38807138-38807138

G

A

exonic

Unknown

nonsynonymous SNV

NM_080631
NM_014396

c.C1171T
c.C1246T

p.R391C
p.R416C

17.08

Leblond2019 E

VPS41

2-1185-003

chr7:
38945971-38945971

G

T

intronic

De novo

-

-

Yuen2017 G

VPS41

PN400305

chr7:
38807138-38807138

G

A

exonic

Unknown

nonsynonymous SNV

NM_080631
NM_014396

c.C1171T
c.C1246T

p.R391C
p.R416C

17.08

Leblond2019 E

VPS41

2-1510-003

chr7:
38914292-38914292

C

A

intronic

De novo

-

-

Yuen2017 G

VPS41

08C77891

chr7:
38813704-38813704

A

G

intronic

De novo

-

Satterstrom2020 E

VPS41

01C05531

chr7:
38798083-38798083

T

C

splicing

De novo

splicing

16.87

-

Fu2022 E

VPS41

PN400108

chr7:
38807138-38807138

G

A

exonic

Unknown

nonsynonymous SNV

NM_080631
NM_014396

c.C1171T
c.C1246T

p.R391C
p.R416C

17.08

Leblond2019 E

VPS41

1-0294-003

chr7:
38940001-38940001

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

VPS41

XA214

chr7:
38782969-38782969

A

G

intronic

De novo

-

-

Satterstrom2020 E

VPS41

5-0109-003

chr7:
38929921-38929921

T

C

intronic

De novo

-

-

Yuen2017 G

VPS41

AU4164301

chr7:
38778005-38778005

T

C

intronic

De novo

-

-

Yuen2017 G

VPS41

2-1338-003

chr7:
38890168-38890168

G

C

intronic

De novo

-

-

Yuen2017 G

VPS41

188-03-100416

chr7:
38857417-38857417

C

A

exonic

De novo

nonsynonymous SNV

NM_080631
NM_014396

c.G375T
c.G450T

p.K125N
p.K150N

16.95

-

Fu2022 E
Satterstrom2020 E

VPS41

AU1742302

chr7:
39013343-39013343

T

G

intergenic

De novo

-

-

Yuen2017 G

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 notes	View
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