Variant Results

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Results for "ZNF516"

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

ZNF516

SP0099141

chr18:
74153487-74153487

G

A

exonic

De novo

synonymous SNV

NM_014643

c.C1524T

p.T508T

-

-

Fu2022 E

ZNF516

2-1526-004

chr18:
74196606-74196606

A

T

intronic

De novo

-

-

Yuen2017 G

ZNF516

1-0412-003

chr18:
74176718-74176718

T

C

intronic

De novo

-

-

Yuen2017 G

ZNF516

AU3808305

chr18:
74195143-74195143

C

T

intronic

De novo

-

-

Yuen2017 G

ZNF516

SP0144587

chr18:
74153438-74153438

G

A

exonic

De novo

nonsynonymous SNV

NM_014643

c.C1573T

p.R525C

17.98

-

Fu2022 E

ZNF516

SSC08104

chr18:
74154934-74154934

A

C

exonic

De novo

nonsynonymous SNV

NM_014643

c.T77G

p.V26G

2.036

-

Fu2022 E

ZNF516

SP0080328

chr18:
74092115-74092115

A

G

exonic

De novo

nonsynonymous SNV

NM_014643

c.T1955C

p.I652T

4.396

-

Fu2022 E

ZNF516

SP0105402

chr18:
74153726-74153726

C

G

exonic

De novo

nonsynonymous SNV

NM_014643

c.G1285C

p.E429Q

16.52

-

Fu2022 E

ZNF516

2-1237-003

chr18:
74120756-74120756

C

T

intronic

De novo

-

-

Yuen2017 G

ZNF516

2-1429-003

chr18:
74113738-74113738

A

C

intronic

De novo

-

-

Yuen2017 G

ZNF516

3-0434-000

chr18:
74133606-74133606

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ZNF516

2-1114-003

chr18:
74076644-74076644

C

T

intronic

De novo

-

-

Yuen2017 G

ZNF516

63-343

chr18:
74197922-74197922

G

C

intronic

De novo

-

-

Michaelson2012 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
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