Variant Results

or

or

Results for "NOL4"

Variant Events: 29

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

NOL4

1-0652-004

chr18:
31694620-31694620

T

C

intronic

De novo

-

-

Yuen2017 G

NOL4

2-1322-004

chr18:
31533550-31533550

T

C

intronic

De novo

-

-

Yuen2017 G

NOL4

2-1511-003

chr18:
31961621-31961636

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

-

Yuen2017 G

NOL4

1-0274-004

chr18:
31693392-31693392

C

G

intronic

De novo

-

-

Yuen2017 G

NOL4

AU3586303

chr18:
31459294-31459294

T

A

intronic

De novo

-

-

Yuen2017 G

NOL4

AU3912302

chr18:
31514515-31514515

G

A

intronic

De novo

-

-

Yuen2017 G

NOL4

13143.p1

chr18:
31703913-31703913

T

A

intronic

De novo

-

-

Wilfert2021 G

NOL4

A20

chr18:
31785561-31785561

C

A

intronic

De novo

-

-

Wu2018 G

NOL4

AU4310301

chr18:
31680663-31680663

G

T

intronic

De novo

-

-

Yuen2017 G

NOL4

AU3905301

chr18:
31723775-31723775

G

A

intronic

De novo

-

-

Yuen2017 G

NOL4

2-1391-003

chr18:
31686155-31686155

A

T

intronic

De novo

-

-

Yuen2017 G

NOL4

AU4211304

chr18:
31768280-31768280

T

C

intronic

De novo

-

-

Yuen2017 G

NOL4

2-1169-003

chr18:
31657098-31657098

G

A

intronic

De novo

-

-

Yuen2017 G

NOL4

1-0965-003

chr18:
32030587-32030587

G

A

intergenic

De novo

-

-

Yuen2017 G

NOL4

14015.p1

chr18:
31983713-31983713

G

A

intergenic

De novo

-

-

Turner2016 G

NOL4

1-0041-003

chr18:
31946736-31946736

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NOL4

AU076704

chr18:
31488851-31488851

T

A

intronic

De novo

-

-

Yuen2017 G

NOL4

14246.p1

chr18:
31803227-31803227

G

C

UTR5

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

NOL4

74-0688

chr18:
31567744-31567744

A

G

intronic

De novo

-

-

Michaelson2012 G

NOL4

63-343

chr18:
31791702-31791702

A

G

intronic

De novo

-

-

Michaelson2012 G

NOL4

1-0338-005

chr18:
31993209-31993209

T

C

intergenic

De novo

-

-

Yuen2017 G

NOL4

1-0736-003

chr18:
31655155-31655155

T

C

intronic

De novo

-

-

Yuen2017 G

NOL4

1-0274-003

chr18:
31693392-31693392

C

G

intronic

De novo

-

-

Yuen2017 G

NOL4

AU3371302

chr18:
32046281-32046281

T

C

intergenic

De novo

-

-

Yuen2017 G

NOL4

2-1437-003

chr18:
31765859-31765859

C

T

intronic

De novo

-

-

Yuen2017 G

NOL4

5-0061-003

chr18:
31569460-31569460

A

G

intronic

De novo

-

-

Yuen2017 G

NOL4

AU045514

chr18:
31482028-31482028

G

A

intronic

De novo

-

-

Yuen2017 G

NOL4

2-1206-003

chr18:
31450856-31450856

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NOL4

2-0320-003

chr18:
31701644-31701644

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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