Variant Results

or

Results for "ZFYVE9"

Variant Events: 25

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

ZFYVE9

11069.p1

chr1:
52704550-52704550

T

G

exonic

De novo

synonymous SNV

NM_004799
NM_007324

c.T1461G
c.T1461G

p.G487G
p.G487G

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZFYVE9

AU3692301

chr1:
52682284-52682284

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

SP0127097

chr1:
52704364-52704364

T

TA

exonic

De novo

frameshift insertion

NM_004799
NM_007324

c.1276dupA
c.1276dupA

p.I425fs
p.I425fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZFYVE9

14270.p1

chr1:
52729524-52729524

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_004799
NM_007324

c.G2258A
c.G2258A

p.C753Y
p.C753Y

25.6

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZFYVE9

AU063004

chr1:
52790544-52790544

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

2-1357-003

chr1:
52642470-52642470

G

T

intronic

De novo

-

Yuen2017 G

ZFYVE9

REACH000605

chr1:
52619019-52619019

A

G

intronic

De novo

-

Trost2022 G

ZFYVE9

2-0159-003

chr1:
52683935-52683943

CCCACAATA

C

intronic

De novo

-

Trost2022 G

ZFYVE9

7-0486-003

chr1:
52640718-52640718

T

C

intronic

De novo

-

Trost2022 G

ZFYVE9

1-0976-003

chr1:
52754945-52754945

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

1-0120-003

chr1:
52633587-52633587

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

MSSNG00242-003

chr1:
52806595-52806595

A

C

intronic

De novo

-

Trost2022 G

ZFYVE9

MSSNG00255-004

chr1:
52796603-52796603

A

G

intronic

De novo

-

Trost2022 G

ZFYVE9

7-0361-003

chr1:
52742683-52742683

C

T

intronic

De novo

-

Trost2022 G

ZFYVE9

3-0176-000

chr1:
52705394-52705394

C

A

intronic

De novo

-

Trost2022 G

ZFYVE9

3-0530-000

chr1:
52776696-52776696

C

T

intronic

De novo

-

Trost2022 G

ZFYVE9

7-0390-003

chr1:
52757076-52757076

A

G

intronic

De novo

-

Trost2022 G

ZFYVE9

5323

chr1:
52704550-52704550

T

G

exonic

De novo

synonymous SNV

NM_004799
NM_007324

c.T1461G
c.T1461G

p.G487G
p.G487G

-

Fu2022 E
Trost2022 G

ZFYVE9

AU072504

chr1:
52750361-52750361

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

1-0032-003

chr1:
52799243-52799248

AGAGGC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZFYVE9

mAGRE1091

chr1:
52703222-52703222

C

CTG

exonic

Paternal

frameshift insertion

NM_004799
NM_007324

c.133_134insTG
c.133_134insTG

p.H45fs
p.H45fs

-

1.65E-5

Cirnigliaro2023 G

ZFYVE9

11409.p1

chr1:
52729428-52729428

C

CCG

intronic

De novo

-

2.0E-4

Krumm2015 E

ZFYVE9

Lim2017:5323

chr1:
52704550-52704550

T

G

exonic

De novo

synonymous SNV

NM_004799
NM_007324

c.T1461G
c.T1461G

p.G487G
p.G487G

-

Lim2017 E

ZFYVE9

PN400326

chr1:
52810458-52810458

G

A

exonic

Unknown

nonsynonymous SNV

NM_007324
NM_004799

c.G3781A
c.G3958A

p.D1261N
p.D1320N

20.3

7.0E-4

Leblond2019 E

ZFYVE9

SSC10984

chr1:
52729524-52729524

G

A

exonic

De novo

nonsynonymous SNV

NM_004799
NM_007324

c.G2258A
c.G2258A

p.C753Y
p.C753Y

25.6

-

Fu2022 E
Lim2017 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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