Variant Results

or

or

Results for "VPS50"

Variant Events: 25

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

AU4168306

chr7:
93001835-93001835

G

A

intergenic

De novo

-

-

Yuen2017 G

VPS50

AU2787301

chr7:
93007449-93007449

T

C

intergenic

De novo

-

-

Yuen2017 G

VPS50

AU2787302

chr7:
93016939-93016939

G

A

intergenic

De novo

-

-

Yuen2017 G

VPS50

12637.p1

chr7:
92920979-92920979

A

G

intronic

De novo

-

-

Satterstrom2020 E

VPS50

2-0238-003

chr7:
92931478-92931478

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

VPS50

2-1480-003

chr7:
92963366-92963366

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VPS50

74-0352

chr7:
92884393-92884393

A

G

intronic

De novo

-

-

Michaelson2012 G

VPS50

iHART1205

chr7:
92926456-92926456

G

A

splicing

Paternal

splicing

21.8

Ruzzo2019 G

VPS50

1-0417-003

chr7:
92991150-92991150

A

G

downstream

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VPS50

AU2988302

chr7:
92871106-92871106

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

VPS50

AU2988303

chr7:
92871106-92871106

A

C

intronic

De novo

-

-

Yuen2017 G

VPS50

4-0003-003

chr7:
92889901-92889901

G

A

intronic

De novo

-

-

Trost2022 G

VPS50

REACH000092

chr7:
92904497-92904497

T

C

intronic

De novo

-

-

Trost2022 G

VPS50

2-1346-003

chr7:
93029160-93029160

A

G

intergenic

De novo

-

-

Yuen2017 G

VPS50

1-0057-003

chr7:
92872496-92872496

A

G

intronic

De novo

-

-

Trost2022 G

VPS50

2-1408-003

chr7:
92952445-92952445

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

VPS50

SSC06041

chr7:
92920979-92920979

A

G

intronic

De novo

-

-

Trost2022 G

VPS50

7-0203-003

chr7:
92983519-92983519

C

T

intronic

De novo

-

-

Trost2022 G

VPS50

mAGRE5369

chr7:
92979228-92979228

G

A

exonic

Paternal

stopgain

NM_017667
NM_001257998

c.G2346A
c.G2256A

p.W782X
p.W752X

41.0

-

Cirnigliaro2023 G

VPS50

mAGRE5368

chr7:
92979228-92979228

G

A

exonic

Paternal

stopgain

NM_017667
NM_001257998

c.G2346A
c.G2256A

p.W782X
p.W752X

41.0

-

Cirnigliaro2023 G

VPS50

mAGRE1205

chr7:
92926456-92926456

G

A

splicing

Paternal

splicing

21.8

Cirnigliaro2023 G

VPS50

11252.p1

chr7:
92908635-92908635

C

A

intronic

De novo

-

-

Turner2016 G

VPS50

1-0534-003

chr7:
93018289-93018289

C

A

intergenic

De novo

-

-

Yuen2017 G

VPS50

2-1438-003

chr7:
92903751-92903751

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VPS50

1-0353-003

chr7:
92928537-92928537

A

T

intronic

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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