Variant Results

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Results for "PHF20"

Variant Events: 12

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

PHF20

1-0338-003

chr20:
34508050-34508050

G

T

intronic

De novo

-

-

Yuen2017 G

PHF20

1-0142-005

chr20:
34534725-34534725

G

A

intronic

De novo

-

-

Yuen2017 G

PHF20

1-1004-003

chr20:
34428573-34428596

CCAGCAGCAGCAGCAGCAGCAGCA

CCAGCAGCAGCAGCAGCAGCA

intronic

De novo

-

-

Yuen2017 G

PHF20

SP0092396

chr20:
34458965-34458965

T

G

exonic

De novo

nonsynonymous SNV

NM_016436

c.T1011G

p.H337Q

9.915

-

Fu2022 E

PHF20

7-0059-003

chr20:
34469276-34469276

G

A

intronic

De novo

-

-

Yuen2017 G

PHF20

SP0048043

chr20:
34446302-34446302

A

C

exonic

De novo

nonsynonymous SNV

NM_016436

c.A419C

p.Q140P

22.1

-

Fu2022 E

PHF20

2-1336-004

chr20:
34493388-34493388

A

G

intronic

De novo

-

-

Yuen2017 G

PHF20

11089.p1

chr20:
34520250-34520250

C

G

intronic

De novo

-

-

Turner2016 G

PHF20

1-0336-003

chr20:
34396865-34396865

C

A

intronic

De novo

-

-

Yuen2017 G

PHF20

2-1339-003

chr20:
34534725-34534725

G

A

intronic

De novo

-

-

Yuen2017 G

PHF20

20.s1

chr20:
34451133-34451133

A

G

exonic

De novo

nonsynonymous SNV

NM_016436

c.A619G

p.K207E

23.4

-

An2014 E

PHF20

AU4239301

chr20:
34453256-34453256

C

G

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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