Variant Results

or

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Results for "ZZEF1"

Variant Events: 15

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

ZZEF1

PN400489

chr17:
3970467-3970467

C

T

exonic

Unknown

nonsynonymous SNV

NM_015113

c.G4145A

p.R1382Q

32.0

Leblond2019 E

ZZEF1

200675779@1082034642

chr17:
3978572-3978572

C

T

exonic

De novo

nonsynonymous SNV

NM_015113

c.G3386A

p.C1129Y

26.2

-

Satterstrom2020 E

ZZEF1

1-0006-003

chr17:
3930319-3930319

A

G

intronic

De novo

-

-

Yuen2017 G

ZZEF1

SSC12895

chr17:
3917418-3917418

G

A

exonic

De novo

synonymous SNV

NM_015113

c.C8379T

p.T2793T

-

Lim2017 E

ZZEF1

2-1335-004

chr17:
3938648-3938648

T

C

intronic

De novo

-

-

Yuen2017 G

ZZEF1

1-0464-003

chr17:
3968928-3968928

C

T

intronic

De novo

-

-

Yuen2017 G

ZZEF1

ASC_CA_150_A

chr17:
3989932-3989932

A

C

exonic

De novo

nonsynonymous SNV

NM_015113

c.T2360G

p.V787G

14.19

-

Satterstrom2020 E

ZZEF1

13515.p1

chr17:
4025526-4025526

G

C

intronic

De novo

-

-

Turner2016 G

ZZEF1

2-0240-004

chr17:
3917940-3917940

G

C

intronic

De novo

-

-

Yuen2017 G

ZZEF1

14682.p1

chr17:
3917418-3917418

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_015113

c.C8379T

p.T2793T

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ZZEF1

Chen2017:40

chr17:
3978572-3978572

C

T

exonic

De novo

nonsynonymous SNV

NM_015113

c.G3386A

p.C1129Y

26.2

-

Chen2017 E

ZZEF1

1-0458-004

chr17:
3920792-3920792

G

A

exonic

De novo

nonsynonymous SNV

NM_015113

c.C7874T

p.S2625F

15.17

-

Yuen2015 G
Yuen2017 G

ZZEF1

AU2023302

chr17:
3969471-3969471

A

C

intronic

De novo

-

-

Yuen2017 G

ZZEF1

118_15mr

chr17:
4027261-4027261

T

C

exonic

De novo

nonsynonymous SNV

NM_015113

c.A439G

p.N147D

21.6

-

Satterstrom2020 E

ZZEF1

AU3840302

chr17:
3932201-3932201

T

C

intronic

De novo

-

-

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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