Variant Results

or

Results for "NUP210"

Variant Events: 28

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

NUP210

SSC05882

chr3:
13367336-13367336

C

A

exonic

De novo

nonsynonymous SNV

NM_024923

c.G4603T

p.V1535F

9.885

-

Fu2022 E
Lim2017 E
Trost2022 G

NUP210

12582.p1

chr3:
13367336-13367336

C

A

exonic

De novo

nonsynonymous SNV

NM_024923

c.G4603T

p.V1535F

9.885

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

NUP210

08C78163

chr3:
13395484-13395484

T

C

exonic

De novo

nonsynonymous SNV

NM_024923

c.A2452G

p.S818G

11.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NUP210

1-0590-003

chr3:
13450018-13450018

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210

SP0117617

chr3:
13368961-13368961

G

C

intronic

De novo

-

Fu2022 E

NUP210

AU2029302

chr3:
13413116-13413116

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210

SP0138719

chr3:
13370354-13370354

G

A

exonic

De novo

synonymous SNV

NM_024923

c.C4203T

p.T1401T

-

4.121E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP210

1-0274-004

chr3:
13482159-13482159

C

T

intergenic

De novo

-

Yuen2017 G

NUP210

iHART1383

chr3:
13368888-13368888

C

CA

exonic

Maternal

frameshift insertion

NM_024923

c.4335dupT

p.V1446fs

-

Ruzzo2019 G

NUP210

1-0107-003

chr3:
13370565-13370565

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NUP210

13973_p1

chr3:
13417817-13417817

C

T

exonic

De novo

nonsynonymous SNV

NM_024923

c.G1267A

p.A423T

22.4

1.0E-4

Fu2022 E

NUP210

161094

chr3:
13432711-13432711

C

T

exonic

De novo

nonsynonymous SNV

NM_024923

c.G533A

p.R178Q

29.5

7.858E-5

Fu2022 E

NUP210

AU2029303

chr3:
13413116-13413116

G

A

intronic

De novo

-

Yuen2017 G

NUP210

5-0055-004

chr3:
13439895-13439895

A

AAC

intronic

De novo

-

Yuen2017 G

NUP210

4-0062-003

chr3:
13455346-13455348

TAT

AAA

intronic

De novo

-

Trost2022 G

NUP210

AU4308302

chr3:
13408035-13408036

TG

T

intronic

De novo

-

Trost2022 G

NUP210

7-0387-004

chr3:
13446324-13446324

T

C

intronic

De novo

-

Trost2022 G

NUP210

mAGRE4427

chr3:
13432739-13432764

TGTCCGCCTCGGAGTCCTTCACAATC

T

exonic

Maternal

frameshift deletion

NM_024923

c.480_504del

p.T160fs

-

1.0E-4

Cirnigliaro2023 G

NUP210

SP0117374

chr3:
13383511-13383511

G

A

exonic

De novo

nonsynonymous SNV

NM_024923

c.C3077T

p.P1026L

7.016

3.0E-4

Trost2022 G

NUP210

mAGRE5461

chr3:
13373878-13373879

CA

C

exonic

Paternal

frameshift deletion

NM_024923

c.3849delT

p.F1283fs

-

8.241E-6

Cirnigliaro2023 G

NUP210

SP0112670

chr3:
13390176-13390176

C

A

intronic

De novo

-

Trost2022 G

NUP210

mAGRE1383

chr3:
13368888-13368888

C

CA

exonic

Maternal

frameshift insertion

NM_024923

c.4335dupT

p.V1446fs

-

Cirnigliaro2023 G

NUP210

mAGRE4948

chr3:
13368755-13368755

T

TC

exonic

Maternal

frameshift insertion

NM_024923

c.4468dupG

p.D1490fs

-

Cirnigliaro2023 G

NUP210

MSSNG00331-003

chr3:
13379518-13379518

G

A

intronic

De novo

-

Trost2022 G

NUP210

12035.p1

chr3:
13399786-13399786

G

A

exonic

Mosaic

nonsynonymous SNV

NM_024923

c.C2264T

p.A755V

2.929

0.2616

Dou2017 E

NUP210

1-0274-003

chr3:
13482159-13482159

C

T

intergenic

De novo

-

Yuen2017 G

NUP210

5-0055-003

chr3:
13439895-13439895

A

AAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210

13973.p1

chr3:
13417817-13417817

C

T

exonic

De novo

nonsynonymous SNV

NM_024923

c.G1267A

p.A423T

22.4

1.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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