Variant Results

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Results for "ZNFX1"

Variant Events: 13

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

ZNFX1

1-0925-003

chr20:
47866518-47866519

AC

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNFX1

12449.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

ZNFX1

1-0209-003

chr20:
47885842-47885842

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNFX1

3-0432-000

chr20:
47889657-47889657

A

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ZNFX1

1-0534-004

chr20:
47863567-47863567

A

G

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

ZNFX1

74-0481

chr20:
47865387-47865387

C

T

exonic

Inherited

nonsynonymous SNV

NM_021035

c.G4174A

p.E1392K

13.86

-

Patowary2019 E

ZNFX1

5-0147-003

chr20:
47880223-47880223

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNFX1

REACH000144

chr20:
47887244-47887244

G

A

exonic

De novo

synonymous SNV

NM_021035

c.C1105T

p.L369L

-

-

Trost2022 G
Zhou2022 GE

ZNFX1

MSSNG00358-003

chr20:
47894516-47894516

C

A

intronic

De novo

-

-

Trost2022 G

ZNFX1

5-5170-003

chr20:
47885002-47885002

G

A

intronic

De novo

-

-

Trost2022 G

ZNFX1

3-0146-000

chr20:
47870143-47870143

C

T

intronic

De novo

-

-

Trost2022 G

ZNFX1

SP0068632

chr20:
47892361-47892361

G

A

exonic

De novo

nonsynonymous SNV

NM_021035

c.C16T

p.P6S

15.52

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNFX1

SP0093825

chr20:
47888233-47888233

G

A

exonic

De novo

nonsynonymous SNV

NM_021035

c.C116T

p.P39L

2.484

-

Fu2022 E
Trost2022 G
Zhou2022 GE

Source Variant Information

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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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