Variant Results

or

Results for "ZFYVE26"

Variant Events: 23

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

ZFYVE26

3-0448-000

chr14:
68248071-68248071

C

T

exonic

De novo

synonymous SNV

NM_015346

c.G4548A

p.A1516A

-

7.434E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFYVE26

AU3451301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE26

AU133A

chr14:
68242625-68242625

C

T

exonic

De novo

nonsynonymous SNV

NM_015346

c.G5173A

p.A1725T

33.0

-

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

ZFYVE26

SSC07492

chr14:
68272014-68272015

GC

G

exonic

De novo

frameshift deletion

NM_015346

c.1190delG

p.G397fs

-

Fu2022 E
Trost2022 G

ZFYVE26

12451.p1

chr14:
68229041-68229041

C

T

exonic

De novo

nonsynonymous SNV

NM_015346

c.G6248A

p.R2083Q

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE

ZFYVE26

1-0051-005

chr14:
68216759-68216761

GTC

G

intronic

De novo

-

Trost2022 G

ZFYVE26

SSC05171

chr14:
68229041-68229041

C

T

exonic

De novo

nonsynonymous SNV

NM_015346

c.G6248A

p.R2083Q

36.0

-

Fu2022 E
Lim2017 E

ZFYVE26

1-0654-003

chr14:
68226811-68226811

G

A

intronic

De novo

-

Trost2022 G

ZFYVE26

12786.p1

chr14:
68229583-68229583

C

A

intronic

De novo

-

Satterstrom2020 E

ZFYVE26

mAGRE4838

chr14:
68273261-68273261

C

A

splicing

Maternal

splicing

25.1

-

Cirnigliaro2023 G

ZFYVE26

13176.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_015346
NM_015346

c.1190delG
c.1189delG

p.G397fs
p.G397fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE

ZFYVE26

mAGRE2550

chr14:
68271996-68272006

CCTGAGGAGCT

C

exonic

Paternal

frameshift deletion

NM_015346

c.1199_1208del

p.E400fs

-

Cirnigliaro2023 G

ZFYVE26

AU065304

chr14:
68236848-68236848

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE26

SP0077038

chr14:
68252971-68252971

A

C

intronic

De novo

-

Trost2022 G

ZFYVE26

mAGRE2549

chr14:
68271996-68272006

CCTGAGGAGCT

C

exonic

Paternal

frameshift deletion

NM_015346

c.1199_1208del

p.E400fs

-

Cirnigliaro2023 G

ZFYVE26

SP0171973

chr14:
68264839-68264843

TCTGA

T

exonic

De novo

frameshift deletion

NM_015346

c.2136_2139del

p.S712fs

-

Trost2022 G

ZFYVE26

SSC07045

chr14:
68229583-68229583

C

A

intronic

De novo

-

Trost2022 G

ZFYVE26

05HI4324A

chr14:
68251849-68251849

G

A

exonic

De novo

synonymous SNV

NM_015346

c.C3450T

p.D1150D

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFYVE26

SP0056636

chr14:
68252971-68252971

A

T

intronic

De novo

-

Trost2022 G

ZFYVE26

iHART2550

chr14:
68271996-68272006

CCTGAGGAGCT

C

exonic

Paternal

frameshift deletion

NM_015346

c.1199_1208del

p.E400fs

-

Ruzzo2019 G

ZFYVE26

SP0034904

chr14:
68252769-68252769

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

ZFYVE26

iHART2549

chr14:
68271996-68272006

CCTGAGGAGCT

C

exonic

Paternal

frameshift deletion

NM_015346

c.1199_1208del

p.E400fs

-

Ruzzo2019 G

ZFYVE26

SP0128843

chr14:
68244249-68244249

C

T

intronic

De novo

-

2.471E-5

Fu2022 E
Trost2022 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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