Variant Results

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Results for "NIPAL3"

Variant Events: 11

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

NIPAL3

Li2017:23082

chr1:
24768672-24768672

C

T

exonic

Unknown

nonsynonymous SNV

NM_020448

c.C290T

p.A97V

21.5

Li2017 T

NIPAL3

2-1114-003

chr1:
24778791-24778791

A

G

intronic

De novo

-

-

Yuen2017 G

NIPAL3

1-0567-004

chr1:
24804670-24804670

A

G

intergenic

De novo

-

-

Yuen2017 G

NIPAL3

AU027506

chr1:
24776653-24776653

G

A

intronic

De novo

-

-

Yuen2017 G

NIPAL3

SP0105586

chr1:
24775904-24775904

T

G

intronic

De novo

-

-

Fu2022 E

NIPAL3

SP0083732

chr1:
24768596-24768596

A

C

exonic

De novo

nonsynonymous SNV

NM_020448

c.A214C

p.K72Q

14.73

-

Fu2022 E

NIPAL3

Li2017:15084

chr1:
24795646-24795646

C

T

exonic

Unknown

stopgain

NM_020448

c.C1192T

p.R398X

42.0

Li2017 T

NIPAL3

Li2017:16248

chr1:
24776039-24776039

G

A

exonic

Unknown

nonsynonymous SNV

NM_020448

c.G463A

p.A155T

28.3

Li2017 T

NIPAL3

1-0495-003

chr1:
24782317-24782317

C

T

intronic

De novo

-

-

Yuen2017 G

NIPAL3

Li2017:23041

chr1:
24782657-24782657

G

A

exonic

Unknown

nonsynonymous SNV

NM_020448

c.G667A

p.V223M

20.1

Li2017 T

NIPAL3

Li2017:19723

chr1:
24795644-24795644

A

G

exonic

Unknown

nonsynonymous SNV

NM_020448

c.A1190G

p.Y397C

22.8

Li2017 T

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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