Variant Results

or

Results for "VPS54"

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

VPS54

MSSNG00357-003

chr2:
64161559-64161559

G

A

intronic

De novo

-

Trost2022 G

VPS54

AU3716301

chr2:
64139379-64139379

T

G

intronic

De novo

-

Yuen2017 G

VPS54

5-5233-003

chr2:
64162116-64162116

T

C

intronic

De novo

-

Trost2022 G

VPS54

3-0380-000

chr2:
64149634-64149634

A

G

intronic

De novo

-

Trost2022 G

VPS54

4-0062-003

chr2:
64245258-64245259

GT

AG

intronic

De novo

-

Trost2022 G

VPS54

mAGRE5386

chr2:
64174579-64174583

GCTTT

G

exonic

De novo

frameshift deletion

NM_001005739
NM_016516

c.1143_1146del
c.1179_1182del

p.R381fs
p.R393fs

-

Cirnigliaro2023 G

VPS54

mAGRE2233

chr2:
64144099-64144099

T

C

splicing

Maternal

splicing

13.77

-

Cirnigliaro2023 G

VPS54

1-1174-003

chr2:
64240733-64240738

TATATC

T

intronic

De novo

-

Trost2022 G

VPS54

1-0563-004

chr2:
64150311-64150311

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS54

1-0564-003

chr2:
64164102-64164102

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS54

1-0756-005

chr2:
64241817-64241822

AAGCGA

CCTTTG

intronic

De novo

-

Trost2022 G

VPS54

2-1475-003

chr2:
64293921-64293921

A

T

intergenic

De novo

-

Yuen2017 G

VPS54

TRE_492

chr2:
64189409-64189409

C

T

exonic

De novo

nonsynonymous SNV

NM_001005739
NM_016516

c.G757A
c.G793A

p.V253I
p.V265I

13.82

-

Fu2022 E

VPS54

7-0457-004

chr2:
64195956-64195956

G

A

intronic

De novo

-

Trost2022 G

VPS54

MT_181.4

chr2:
64208024-64208024

C

T

intronic

De novo

-

Trost2022 G

VPS54

09C84554

chr2:
64120568-64120568

C

A

exonic

De novo

nonsynonymous SNV

NM_001005739
NM_016516

c.G2894T
c.G2930T

p.R965M
p.R977M

28.9

-

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

VPS54

AU3517301

chr2:
64175828-64175828

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS54

iHART2233

chr2:
64144099-64144099

T

C

splicing

Maternal

splicing

13.77

-

Ruzzo2019 G

VPS54

11379-1

chr2:
64139761-64139761

G

A

exonic

De novo

synonymous SNV

NM_001005739
NM_016516

c.C2421T
c.C2457T

p.H807H
p.H819H

-

Fu2022 E

VPS54

AU0786305

chr2:
64154490-64154490

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS54

AU3782302

chr2:
64158325-64158325

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VPS54

05C49685

chr2:
64174510-64174510

T

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
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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