Variant Results

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or

Results for "NUP153"

Variant Events: 15

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

NUP153

PN400512

chr6:
17649494-17649494

G

A

exonic

Unknown

nonsynonymous SNV

NM_001278210
NM_005124
NM_001278209

c.C1433T
c.C1433T
c.C1526T

p.P478L
p.P478L
p.P509L

19.05

Leblond2019 E

NUP153

AU2793303

chr6:
17643773-17643773

C

T

intronic

De novo

-

-

Yuen2017 G

NUP153

SP0058507

chr6:
17628957-17628957

G

C

exonic

De novo

nonsynonymous SNV

NM_001278210
NM_005124
NM_001278209

c.C3347G
c.C3473G
c.C3566G

p.P1116R
p.P1158R
p.P1189R

16.26

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP153

1-0526-003

chr6:
17729928-17729928

A

AT

intergenic

De novo

-

-

Yuen2017 G

NUP153

74-0765

chr6:
17626137-17626137

G

C

exonic

Inherited

nonsynonymous SNV

NM_001278210
NM_005124
NM_001278209

c.C3677G
c.C3803G
c.C3896G

p.T1226R
p.T1268R
p.T1299R

15.29

Patowary2019 E

NUP153

A28

chr6:
17707074-17707074

T

C

upstream

De novo

-

-

Wu2018 G

NUP153

MSSNG00348-003

chr6:
17657591-17657591

T

C

intronic

De novo

-

-

Trost2022 G

NUP153

MSSNG00356-003

chr6:
17675689-17675690

GA

G

intronic

De novo

-

-

Trost2022 G

NUP153

1-1182-003

chr6:
17641945-17641945

G

A

intronic

De novo

-

-

Trost2022 G

NUP153

2-1357-004

chr6:
17742699-17742699

C

G

intergenic

De novo

-

-

Yuen2017 G

NUP153

DEASD_1087_001

chr6:
17648171-17648171

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

NUP153

AU3680302

chr6:
17624050-17624050

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NUP153

G01-GEA-3-HI(

chr6:
17629408-17629408

C

G

exonic

De novo

nonsynonymous SNV

NM_001278210
NM_005124
NM_001278209

c.G2896C
c.G3022C
c.G3115C

p.E966Q
p.E1008Q
p.E1039Q

3.503

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NUP153

3-0221-000

chr6:
17704367-17704369

CAA

C

intronic

De novo

-

-

Trost2022 G

NUP153

3-0221-000

chr6:
17704383-17704383

C

A

intronic

De novo

-

-

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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