Variant Results

or

Results for "VPS13C"

Variant Events: 42

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

VPS13C

2-0198-004

chr15:
62149531-62149532

AA

CTGTGTCCT

intronic

De novo

-

Trost2022 G

VPS13C

1-0565-003

chr15:
62321784-62321784

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

1-1230-003

chr15:
62248394-62248394

G

C

intronic

De novo

-

Trost2022 G

VPS13C

7-0103-003

chr15:
62157589-62157589

A

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

MSSNG00168-003

chr15:
62263825-62263825

C

A

intronic

De novo

-

Trost2022 G

VPS13C

AU2212301

chr15:
62227988-62227988

A

C

intronic

De novo

-

Trost2022 G

VPS13C

1-1022-003A

chr15:
62228409-62228409

G

C

intronic

De novo

-

Trost2022 G

VPS13C

1-0107-003

chr15:
62195363-62195363

G

GA

intronic

De novo

-

Trost2022 G

VPS13C

MSSNG00046-003

chr15:
62202291-62202291

G

A

intronic

De novo

-

Trost2022 G

VPS13C

mAGRE5361

chr15:
62316033-62316033

T

TA

exonic

Paternal

stopgain

NM_001018088
NM_020821

c.459dupT
c.459dupT

p.K154_K155delinsX
p.K154_K155delinsX

-

Cirnigliaro2023 G

VPS13C

2-1562-003

chr15:
62347675-62347675

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

3-0466-000A

chr15:
62168294-62168294

G

A

intronic

De novo

-

Trost2022 G

VPS13C

mAGRE4244

chr15:
62219289-62219289

C

T

splicing

Maternal

splicing

28.6

-

Cirnigliaro2023 G

VPS13C

MSSNG00208-003

chr15:
62178229-62178230

GC

G

intronic

De novo

-

Trost2022 G

VPS13C

mAGRE2077

chr15:
62148607-62148607

G

A

exonic

Paternal

stopgain

NM_017684
NM_020821

c.C10825T
c.C10954T

p.R3609X
p.R3652X

53.0

2.0E-4

Cirnigliaro2023 G

VPS13C

MSSNG00002-003

chr15:
62338050-62338051

CA

C

intronic

De novo

-

Trost2022 G

VPS13C

MSSNG00002-004

chr15:
62338050-62338051

CA

C

intronic

De novo

-

Trost2022 G

VPS13C

2-1540-003

chr15:
62318022-62318025

GAAC

TATGTTGTTTT

intronic

De novo

-

Trost2022 G

VPS13C

MSSNG00099-003

chr15:
62330764-62330764

C

T

intronic

De novo

-

Trost2022 G

VPS13C

MSSNG00056-003

chr15:
62292592-62292592

T

C

intronic

De novo

-

Trost2022 G

VPS13C

6-0476-003

chr15:
62314492-62314492

G

T

intronic

De novo

-

Trost2022 G

VPS13C

SJD_44.3

chr15:
62277920-62277920

G

C

intronic

De novo

-

Trost2022 G

VPS13C

AU3874302

chr15:
62350650-62350650

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

MT_33.3

chr15:
62291603-62291603

G

C

intronic

De novo

-

Trost2022 G

VPS13C

2-0272-003

chr15:
62304608-62304608

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

AU070007

chr15:
62341793-62341793

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

SP0104730

chr15:
62146644-62146644

T

G

UTR3

De novo

-

Fu2022 E

VPS13C

SP0105000

chr15:
62170914-62170914

C

G

exonic

De novo

nonsynonymous SNV

NM_017684
NM_018080
NM_001018088
NM_020821

c.G9905C
c.G9905C
c.G10034C
c.G10034C

p.G3302A
p.G3302A
p.G3345A
p.G3345A

12.64

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VPS13C

3-0866-000

chr15:
62348839-62348839

C

T

intronic

De novo

-

Trost2022 G

VPS13C

SP0006750

chr15:
62182337-62182337

G

A

intronic

De novo

-

Fu2022 E

VPS13C

SP0021973

chr15:
62159826-62159826

T

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

VPS13C

08C75916

chr15:
62232818-62232818

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

VPS13C

111312

chr15:
62251718-62251718

G

A

exonic

nonsynonymous SNV

NM_017684
NM_018080
NM_001018088
NM_020821

c.C3856T
c.C3856T
c.C3985T
c.C3985T

p.R1286W
p.R1286W
p.R1329W
p.R1329W

21.7

2.493E-5

Woodbury-Smith2022 E

VPS13C

SP0014997

chr15:
62209896-62209896

A

C

intronic

De novo

-

Fu2022 E

VPS13C

2-1365-003

chr15:
62305476-62305476

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VPS13C

1-0054-004

chr15:
62334113-62334113

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

7-0273-003

chr15:
62316850-62316850

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

AU024607

chr15:
62252975-62252975

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

AU072004

chr15:
62180592-62180592

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS13C

14482.p1

chr15:
62253106-62253106

C

T

intronic

De novo

-

Turner2016 G

VPS13C

A28

chr15:
62152047-62152047

A

T

intronic

De novo

-

Wu2018 G

VPS13C

AU4235302

chr15:
62149233-62149233

G

C

intronic

De novo

-

Trost2022 G
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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