Variant Results

or

Results for "NUP133"

Variant Events: 16

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

NUP133

5-0040-003

chr1:
229643446-229643449

CATA

C

intronic

De novo

-

Yuen2017 G

NUP133

SP0055878

chr1:
229643919-229643919

G

C

exonic

De novo

synonymous SNV

NM_018230

c.C78G

p.G26G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP133

5913

chr1:
229596508-229596508

T

C

exonic

De novo

synonymous SNV

NM_018230

c.A2694G

p.S898S

-

Fu2022 E

NUP133

35962

chr1:
229602434-229602434

T

C

exonic

De novo

nonsynonymous SNV

NM_018230

c.A2146G

p.M716V

1.443

8.241E-6

Fu2022 E
Trost2022 G

NUP133

SP0063830

chr1:
229593868-229593868

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

NUP133

A27

chr1:
229581017-229581017

A

G

intronic

De novo

-

Wu2018 G

NUP133

14015.p1

chr1:
229632275-229632275

G

A

intronic

De novo

-

Turner2016 G

NUP133

AU1848302

chr1:
229625067-229625067

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP133

AU2310301

chr1:
229578324-229578324

A

G

intronic

De novo

-

Trost2022 G

NUP133

AU2310301

chr1:
229577615-229577615

A

G

UTR3

De novo

-

Trost2022 G

NUP133

12153.p1

chr1:
229596508-229596508

T

C

exonic

De novo

synonymous SNV

NM_018230

c.A2694G

p.S898S

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Zhou2022 GE

NUP133

MSSNG00351-004

chr1:
229606282-229606282

A

G

intronic

De novo

-

Trost2022 G

NUP133

13703.p1

chr1:
229602434-229602434

T

C

exonic

De novo

nonsynonymous SNV

NM_018230

c.A2146G

p.M716V

1.443

8.241E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NUP133

MSSNG00383-003

chr1:
229588718-229588718

T

C

intronic

De novo

-

Trost2022 G

NUP133

12821.p1

chr1:
229637765-229637765

G

A

exonic

De novo

nonsynonymous SNV

NM_018230

c.C386T

p.A129V

15.03

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NUP133

SSC05931

chr1:
229637765-229637765

G

A

exonic

De novo

nonsynonymous SNV

NM_018230

c.C386T

p.A129V

15.03

-

Fu2022 E
Lim2017 E
Trost2022 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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