Variant Results

or

or

Results for "VPS13A"

Variant Events: 18

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

VPS13A

AU3807302

chr9:
79899330-79899330

A

G

intronic

De novo

-

-

Yuen2017 G

VPS13A

2-0240-004

chr9:
79818038-79818045

TAGAATGC

T

intronic

De novo

-

-

Yuen2017 G

VPS13A

iHART3242

chr9:
79820892-79820892

A

G

splicing

Maternal

splicing

19.98

-

Ruzzo2019 G

VPS13A

iHART3240

chr9:
79820892-79820892

A

G

splicing

Maternal

splicing

19.98

-

Ruzzo2019 G

VPS13A

7-0103-003

chr9:
79831270-79831270

T

C

intronic

De novo

-

-

Yuen2017 G

VPS13A

111316

chr9:
79852989-79852989

C

A

exonic

nonsynonymous SNV

NM_001018037
NM_001018038
NM_015186
NM_033305

c.C1667A
c.C1667A
c.C1667A
c.C1667A

p.S556Y
p.S556Y
p.S556Y
p.S556Y

23.3

-

Woodbury-Smith2022 E

VPS13A

13623_p1

chr9:
79932586-79932586

A

T

exonic

De novo

nonsynonymous SNV

NM_001018037
NM_001018038
NM_015186
NM_033305

c.A4811T
c.A4928T
c.A4928T
c.A4928T

p.D1604V
p.D1643V
p.D1643V
p.D1643V

16.82

-

Fu2022 E

VPS13A

13623.p1

chr9:
79932586-79932586

A

T

exonic

De novo

nonsynonymous SNV

NM_001018037
NM_001018038
NM_015186
NM_033305

c.A4811T
c.A4928T
c.A4928T
c.A4928T

p.D1604V
p.D1643V
p.D1643V
p.D1643V

16.82

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

VPS13A

2-0310-004

chr9:
79859573-79859573

C

A

intronic

De novo

-

-

Yuen2017 G

VPS13A

2-1605-003

chr9:
79869766-79869766

T

G

intronic

De novo

-

-

Yuen2017 G

VPS13A

1-0995-003

chr9:
79822779-79822796

TTTGTTGTTGTTGTTGTT

TTTGTTGTTGTTGTT

intronic

De novo

-

-

Yuen2017 G

VPS13A

1-0119-004

chr9:
79862299-79862299

T

A

exonic

De novo

synonymous SNV

NM_001018037
NM_001018038
NM_015186
NM_033305

c.T2025A
c.T2025A
c.T2025A
c.T2025A

p.L675L
p.L675L
p.L675L
p.L675L

-

-

Yuen2017 G

VPS13A

2-0081-003

chr9:
79999853-79999854

AG

A

UTR3

De novo

-

-

Yuen2017 G

VPS13A

7-0058-003

chr9:
79836847-79836847

G

A

intronic

De novo

-

-

Yuen2017 G

VPS13A

SP0049936

chr9:
79933443-79933443

G

A

exonic

De novo

nonsynonymous SNV

NM_001018037
NM_001018038
NM_015186
NM_033305

c.G5132A
c.G5249A
c.G5249A
c.G5249A

p.R1711H
p.R1750H
p.R1750H
p.R1750H

13.99

Fu2022 E

VPS13A

AU0780301

chr9:
79910369-79910369

T

A

intronic

De novo

-

-

Yuen2017 G

VPS13A

SP0137966

chr9:
79840953-79840953

G

T

intronic

De novo

-

-

Fu2022 E

VPS13A

SP0043752

chr9:
79835154-79835155

AT

A

intronic

De novo

-

-

Fu2022 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 notes	View
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