Variant Results

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Results for "NUP155"

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

NUP155

SP0005811

chr5:
37301588-37301588

A

G

exonic

De novo

nonsynonymous SNV

NM_001278312
NM_004298
NM_153485

c.T3320C
c.T3335C
c.T3512C

p.V1107A
p.V1112A
p.V1171A

15.72

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP155

5-0011-003

chr5:
37321442-37321442

T

C

intronic

De novo

-

-

Trost2022 G

NUP155

SP0009665

chr5:
37307447-37307447

T

C

exonic

De novo

nonsynonymous SNV

NM_001278312
NM_004298
NM_153485

c.A2663G
c.A2678G
c.A2855G

p.H888R
p.H893R
p.H952R

17.87

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP155

3-0604-000

chr5:
37355641-37355641

G

T

intronic

De novo

-

-

Trost2022 G

NUP155

SP0097018

chr5:
37370724-37370724

C

T

intronic

De novo

-

-

Fu2022 E

NUP155

11592.p1

chr5:
37331869-37331869

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001278312
NM_004298
NM_153485

c.C1547T
c.C1370T
c.C1547T

p.P516L
p.P457L
p.P516L

28.2

Dou2017 E

NUP155

SP0086991

chr5:
37303287-37303287

A

G

intronic

De novo

-

-

Fu2022 E

NUP155

AU056005

chr5:
37294127-37294127

A

T

intronic

De novo

-

-

Trost2022 G

NUP155

5-0087-003

chr5:
37346900-37346900

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NUP155

SJD_44.3

chr5:
37365535-37365535

C

T

intronic

De novo

-

-

Trost2022 G

NUP155

AM04ZF-03

chr5:
37359143-37359143

G

A

intronic

De novo

-

-

Trost2022 G

NUP155

REACH000631

chr5:
37363064-37363064

G

C

intronic

De novo

-

-

Trost2022 G

NUP155

1-0169-003

chr5:
37355228-37355232

GTATC

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NUP155

mAGRE5751

chr5:
37310788-37310788

C

A

exonic

Paternal

stopgain

NM_004298
NM_153485

c.G2317T
c.G2494T

p.E773X
p.E832X

43.0

-

Cirnigliaro2023 G

NUP155

mAGRE5750

chr5:
37310788-37310788

C

A

exonic

Paternal

stopgain

NM_004298
NM_153485

c.G2317T
c.G2494T

p.E773X
p.E832X

43.0

-

Cirnigliaro2023 G

NUP155

Mahjani2021:127

chr5:
37305245-37305245

G

A

exonic

stopgain

NM_001278312
NM_004298
NM_153485

c.C2779T
c.C2794T
c.C2971T

p.Q927X
p.Q932X
p.Q991X

41.0

-

Mahjani2021 E

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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