Variant Results

or

Results for "VPS13D"

Variant Events: 45

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

VPS13D

5-5186-003

chr1:
12341517-12341517

G

A

intronic

De novo

-

Trost2022 G

VPS13D

7-0395-003

chr1:
12292044-12292044

T

A

intronic

De novo

-

Trost2022 G

VPS13D

1-0630-003

chr1:
12370166-12370166

A

G

intronic

De novo

-

Trost2022 G

VPS13D

SP0106340

chr1:
12343101-12343101

C

T

exonic

De novo

stopgain

NM_015378
NM_018156

c.C4942T
c.C4942T

p.Q1648X
p.Q1648X

46.0

-

Trost2022 G

VPS13D

7-0230-003

chr1:
12475677-12475681

GGACA

TTTTT

intronic

De novo

-

Trost2022 G

VPS13D

SP0153456

chr1:
12475128-12475128

T

G

intronic

De novo

-

Trost2022 G

VPS13D

iHART2440

chr1:
12428551-12428551

C

T

exonic

Paternal

stopgain

NM_018156
NM_015378

c.C10402T
c.C10477T

p.R3468X
p.R3493X

53.0

-

Ruzzo2019 G

VPS13D

AU2237301

chr1:
12558095-12558095

G

A

intronic

De novo

-

Trost2022 G

VPS13D

7-0119-003

chr1:
12388004-12388004

A

T

intronic

De novo

-

Trost2022 G

VPS13D

MSSNG00221-003

chr1:
12385155-12385155

T

C

intronic

De novo

-

Trost2022 G

VPS13D

1-1016-003A

chr1:
12451450-12451450

G

A

intronic

De novo

-

Trost2022 G

VPS13D

MSSNG00037-004A

chr1:
12427660-12427660

C

T

intronic

De novo

-

Trost2022 G

VPS13D

AU2437302

chr1:
12291162-12291162

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

11456.p1

chr1:
12320104-12320104

A

T

intronic

De novo

-

Turner2016 G

VPS13D

iHART1571

chr1:
12463986-12463988

TAA

T

exonic

Maternal

frameshift deletion

NM_018156
NM_015378

c.11916_11917del
c.11991_11992del

p.L3972fs
p.L3997fs

-

Ruzzo2019 G

VPS13D

1-0346-004

chr1:
12436217-12436217

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

DEASD_0068_001

chr1:
12336770-12336770

C

T

exonic

De novo

nonsynonymous SNV

NM_015378
NM_018156

c.C3125T
c.C3125T

p.S1042F
p.S1042F

18.67

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VPS13D

AU2756306

chr1:
12522193-12522194

GC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

1-0547-003

chr1:
12427510-12427510

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

2-1505-003

chr1:
12385347-12385347

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

SP0004009

chr1:
12409422-12409422

G

A

exonic

De novo

nonsynonymous SNV

NM_018156
NM_015378

c.G9347A
c.G9422A

p.R3116Q
p.R3141Q

21.1

7.0E-4

Fu2022 E
Zhou2022 GE

VPS13D

151454

chr1:
12379558-12379558

G

A

exonic

De novo

synonymous SNV

NM_015378
NM_018156

c.G7419A
c.G7419A

p.T2473T
p.T2473T

4.621

1.648E-5

Fu2022 E

VPS13D

SP0126876

chr1:
12304385-12304385

C

A

exonic

De novo

nonsynonymous SNV

NM_015378
NM_018156

c.C258A
c.C258A

p.H86Q
p.H86Q

16.86

-

Fu2022 E
Zhou2022 GE

VPS13D

SP0083020

chr1:
12408867-12408867

C

T

intronic

De novo

-

1.0E-4

Fu2022 E
Trost2022 G

VPS13D

SP0010754

chr1:
12336066-12336066

T

C

exonic

De novo

synonymous SNV

NM_015378
NM_018156

c.T2421C
c.T2421C

p.H807H
p.H807H

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VPS13D

A25

chr1:
12450898-12450898

C

T

intronic

De novo

-

Wu2018 G

VPS13D

SSC09591

chr1:
12428630-12428630

T

C

exonic

De novo

nonsynonymous SNV

NM_018156
NM_015378

c.T10481C
c.T10556C

p.I3494T
p.I3519T

24.7

-

Fu2022 E
Trost2022 G

VPS13D

SP0067003

chr1:
12335954-12335954

C

T

exonic

De novo

nonsynonymous SNV

NM_015378
NM_018156

c.C2309T
c.C2309T

p.T770I
p.T770I

15.15

-

Fu2022 E
Zhou2022 GE

VPS13D

AU3779301

chr1:
12402345-12402345

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

12108.p1

chr1:
12428626-12428626

C

T

exonic

Mosaic

stopgain

NM_018156
NM_015378

c.C10477T
c.C10552T

p.R3493X
p.R3518X

53.0

8.31E-6

Dou2017 E
Krupp2017 E

VPS13D

1-0405-003

chr1:
12474491-12474491

G

A

intronic

De novo

-

Yuen2017 G

VPS13D

mAGRE1571

chr1:
12463986-12463988

TAA

T

exonic

Maternal

frameshift deletion

NM_018156
NM_015378

c.11916_11917del
c.11991_11992del

p.L3972fs
p.L3997fs

-

Cirnigliaro2023 G

VPS13D

G01-GEA-327_HI

chr1:
12408902-12408902

G

A

exonic

De novo

nonsynonymous SNV

NM_018156
NM_015378

c.G9017A
c.G9092A

p.R3006Q
p.R3031Q

36.0

8.239E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VPS13D

3-0129-000

chr1:
12364754-12364754

A

G

exonic

De novo

synonymous SNV

NM_015378
NM_018156

c.A6408G
c.A6408G

p.T2136T
p.T2136T

0.14

4.164E-5

Trost2022 G
Zhou2022 GE

VPS13D

mAGRE2440

chr1:
12428551-12428551

C

T

exonic

Paternal

stopgain

NM_018156
NM_015378

c.C10402T
c.C10477T

p.R3468X
p.R3493X

53.0

-

Cirnigliaro2023 G

VPS13D

3-0143-001

chr1:
12336561-12336561

C

T

exonic

De novo

synonymous SNV

NM_015378
NM_018156

c.C2916T
c.C2916T

p.G972G
p.G972G

-

Trost2022 G
Zhou2022 GE

VPS13D

mAGRE5386

chr1:
12379689-12379689

T

A

splicing

Maternal

splicing

29.3

-

Cirnigliaro2023 G

VPS13D

1-0142-005

chr1:
12544002-12544002

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

AU4243302

chr1:
12441214-12441214

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

mAGRE5385

chr1:
12379689-12379689

T

A

splicing

Maternal

splicing

29.3

-

Cirnigliaro2023 G

VPS13D

3-0439-000

chr1:
12527634-12527634

T

C

intronic

De novo

-

Yuen2016 G

VPS13D

AU024607

chr1:
12311554-12311554

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

1-0138-004

chr1:
12432976-12432976

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

1-0756-004

chr1:
12319459-12319459

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13D

13930.p1

chr1:
12428630-12428630

T

C

exonic

De novo

nonsynonymous SNV

NM_018156
NM_015378

c.T10481C
c.T10556C

p.I3494T
p.I3519T

24.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

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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