Variant Results

or

Results for "ZNF521"

Variant Events: 42

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

ZNF521

1-0534-004

chr18:
23241115-23241115

C

G

intergenic

De novo

-

Yuen2017 G

ZNF521

7-0255-003

chr18:
23222777-23222777

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

AU3885304

chr18:
22877494-22877494

T

G

intronic

De novo

-

Yuen2017 G

ZNF521

2-1389-003

chr18:
23381969-23381969

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF521

5-0033-004

chr18:
23141980-23141980

A

ACT

intergenic

De novo

-

Yuen2017 G

ZNF521

2-1163-003

chr18:
23190915-23190915

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF521

2-1417-003

chr18:
23465372-23465372

T

C

intergenic

De novo

-

Yuen2017 G

ZNF521

2-0215-003

chr18:
23020611-23020611

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

F10297-1

chr18:
22642753-22642753

A

AAAG

intronic

De novo

-

Satterstrom2020 E

ZNF521

13171.p1

chr18:
23245663-23245663

C

T

intergenic

De novo

-

Turner2016 G

ZNF521

13539.p1

chr18:
22897117-22897117

G

A

intronic

De novo

-

Turner2016 G

ZNF521

AU0452303

chr18:
23556927-23556927

C

A

intergenic

De novo

-

Yuen2017 G

ZNF521

1-0402-003

chr18:
22664658-22664658

T

A

intronic

De novo

-

Yuen2017 G

ZNF521

2-1696-003

chr18:
23003669-23003669

A

C

intergenic

De novo

-

Yuen2017 G

ZNF521

7-0253-003

chr18:
23482077-23482093

TTCTCTCTCTCTCTCTC

TTCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

ZNF521

AU072505

chr18:
22856607-22856607

G

A

intronic

De novo

-

Yuen2017 G

ZNF521

7-0148-003

chr18:
22762812-22762824

TCTTTACCTTTAC

TCTTTAC

intronic

De novo

-

Yuen2017 G

ZNF521

1-0357-003

chr18:
23075614-23075614

T

A

intergenic

De novo

-

Yuen2017 G

ZNF521

2-1288-003

chr18:
23305354-23305354

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

AU2863303

chr18:
23546965-23546965

A

C

intergenic

De novo

-

Yuen2017 G

ZNF521

7-0068-003

chr18:
23215101-23215101

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

AU4145301

chr18:
23388780-23388780

A

G

intergenic

De novo

-

Yuen2017 G

ZNF521

AU4176302

chr18:
22926022-22926028

GAAAAAA

GAAAAAAA

intronic

De novo

-

Yuen2017 G

ZNF521

7-0058-003

chr18:
23498280-23498280

T

C

intergenic

De novo

-

Yuen2017 G

ZNF521

2-1357-003

chr18:
22734701-22734701

G

A

intronic

De novo

-

Yuen2017 G

ZNF521

AU3951302

chr18:
23501945-23501950

TATGAT

TAT

intergenic

De novo

-

Yuen2017 G

ZNF521

AU3729303

chr18:
23586061-23586061

A

T

intergenic

De novo

-

Yuen2017 G

ZNF521

AU066206

chr18:
23410797-23410797

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

11479.p1

chr18:
23383992-23383992

A

T

intergenic

Mosaic

-

Dou2017 E

ZNF521

AU3857301

chr18:
22699084-22699084

G

A

intronic

De novo

-

Yuen2017 G

ZNF521

1-0052-003

chr18:
23427128-23427128

C

T

intergenic

De novo

-

Yuen2017 G

ZNF521

AU3857301

chr18:
23078240-23078240

A

G

intergenic

De novo

-

Yuen2017 G

ZNF521

1-0820-003

chr18:
23271303-23271303

G

A

intergenic

De novo

-

Yuen2017 G

ZNF521

AU3371302

chr18:
23459392-23459392

C

G

intergenic

De novo

-

Yuen2017 G

ZNF521

13034.p1

chr18:
22807228-22807228

G

A

exonic

Mosaic

synonymous SNV

NM_015461

c.C654T

p.H218H

-

4.122E-5

Dou2017 E

ZNF521

AU1795303

chr18:
22768038-22768038

A

G

intronic

De novo

-

Yuen2017 G

ZNF521

AU1933302

chr18:
23394107-23394107

C

A

intergenic

De novo

-

Yuen2017 G

ZNF521

AU3765303

chr18:
23161343-23161343

T

A

intergenic

De novo

-

Yuen2017 G

ZNF521

1-0458-003

chr18:
22930151-22930151

C

T

intronic

De novo

-

Yuen2017 G

ZNF521

08C74336

chr18:
22805820-22805820

T

C

exonic

De novo

nonsynonymous SNV

NM_001308225
NM_015461

c.A1402G
c.A2062G

p.M468V
p.M688V

8.301

-

Satterstrom2020 E

ZNF521

7-0188-003

chr18:
22791503-22791503

T

C

intronic

De novo

-

Yuen2017 G

ZNF521

AU2793301

chr18:
22905609-22905609

C

T

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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