Variant Results

or

Results for "NUP205"

Variant Events: 14

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

NUP205

AU1894304

chr7:
135308852-135308852

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP205

SP0145888

chr7:
135311032-135311032

G

C

exonic

De novo

nonsynonymous SNV

NM_015135

c.G4716C

p.E1572D

20.2

-

Trost2022 G

NUP205

1-0548-003

chr7:
135312408-135312408

A

G

intronic

De novo

-

Trost2022 G

NUP205

2-1505-004

chr7:
135285784-135285784

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP205

10-0005-003

chr7:
135305210-135305210

G

C

intronic

De novo

-

Trost2022 G

NUP205

1-0183-004

chr7:
135306094-135306094

G

C

intronic

De novo

-

Trost2022 G

NUP205

PN400321

chr7:
135327969-135327969

C

T

exonic

Unknown

nonsynonymous SNV

NM_015135

c.C5422T

p.R1808C

21.3

2.0E-4

Leblond2019 E

NUP205

SP0124588

chr7:
135262608-135262608

A

G

exonic

De novo

nonsynonymous SNV

NM_015135

c.A713G

p.Q238R

28.6

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP205

2-1734-004

chr7:
135280103-135280103

C

T

intronic

De novo

-

Trost2022 G

NUP205

P1193

chr7:
135333246-135333246

G

C

exonic

De novo

nonsynonymous SNV

NM_015135

c.G5981C

p.S1994T

9.086

-

Hashimoto2016 E

NUP205

DEASD_0243_001

chr7:
135277850-135277850

G

A

exonic

De novo

synonymous SNV

NM_015135

c.G1740A

p.Q580Q

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NUP205

7-0412-003

chr7:
135287605-135287605

T

TAA

exonic

De novo

frameshift insertion

NM_015135

c.2565_2566insAA

p.L855fs

-

Trost2022 G
Zhou2022 GE

NUP205

111309

chr7:
135262689-135262689

A

G

exonic

nonsynonymous SNV

NM_015135

c.A794G

p.D265G

22.6

-

Woodbury-Smith2022 E

NUP205

SP0058179

chr7:
135258481-135258481

G

T

exonic

nonsynonymous SNV

NM_015135

c.G251T

p.R84L

14.06

-

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
Curation notes	View
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