Variant Results

or

Results for "NUP210L"

Variant Events: 32

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

NUP210L

7-0167-003

chr1:
154122760-154122760

T

C

intronic

De novo

-

Yuen2017 G

NUP210L

NDAR_INVLA204TKP_wes1

chr1:
154034042-154034042

A

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

NUP210L

SP0055942

chr1:
153973506-153973506

C

T

exonic

De novo

nonsynonymous SNV

NM_207308

c.G5212A

p.A1738T

0.449

1.658E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NUP210L

14065.p1

chr1:
154067525-154067525

C

T

exonic

De novo

synonymous SNV

NM_001159484
NM_207308

c.G2073A
c.G2073A

p.L691L
p.L691L

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

NUP210L

AU4197302

chr1:
154061492-154061492

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210L

AU3779304

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Cirnigliaro2023 G

NUP210L

AU3779302

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Cirnigliaro2023 G

NUP210L

AU3779301

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Cirnigliaro2023 G

NUP210L

2-1164-003

chr1:
153996752-153996752

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NUP210L

iHART3190

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Ruzzo2019 G

NUP210L

1-0175-003

chr1:
154043456-154043456

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210L

7-0249-003

chr1:
154100678-154100678

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210L

GEA358

chr1:
154061988-154061988

C

T

exonic

De novo

nonsynonymous SNV

NM_001159484
NM_207308

c.G2270A
c.G2270A

p.C757Y
p.C757Y

18.11

-

Fu2022 E

NUP210L

iHART3187

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Ruzzo2019 G

NUP210L

iHART3184

chr1:
154002398-154002412

CCAACAAATTCCCCT

C

exonic

Maternal

frameshift deletion

NM_001159484
NM_207308

c.3815_3828del
c.3815_3828del

p.E1272fs
p.E1272fs

-

Ruzzo2019 G

NUP210L

1-0541-003

chr1:
154027667-154027667

T

TC

intronic

De novo

-

Yuen2017 G

NUP210L

MSSNG00445-003

chr1:
154054702-154054702

G

A

intronic

De novo

-

Trost2022 G

NUP210L

AU024105

chr1:
154030192-154030192

G

GTA

intronic

De novo

-

Trost2022 G

NUP210L

MSSNG00049-003

chr1:
154061226-154061226

G

A

intronic

De novo

-

Trost2022 G

NUP210L

2-1626-003

chr1:
153980282-153980282

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUP210L

5-5020-003

chr1:
154055029-154055029

C

T

intronic

De novo

-

Trost2022 G

NUP210L

2-1788-003

chr1:
153972245-153972245

G

A

intronic

De novo

-

Trost2022 G

NUP210L

SJD_55.3

chr1:
153966226-153966230

TAGAC

T

intronic

De novo

-

Trost2022 G

NUP210L

4-0062-003

chr1:
154013037-154013038

TC

AT

intronic

De novo

-

Trost2022 G

NUP210L

LM-C004-C

chr1:
154030906-154030906

G

A

intronic

De novo

-

Fu2022 E

NUP210L

4-0086-003

chr1:
153988552-153988552

G

A

intronic

De novo

-

Trost2022 G

NUP210L

SSC10390

chr1:
154067525-154067525

C

T

exonic

De novo

synonymous SNV

NM_001159484
NM_207308

c.G2073A
c.G2073A

p.L691L
p.L691L

-

Fu2022 E
Lim2017 E
Trost2022 G

NUP210L

1-0158-003

chr1:
154096652-154096652

G

A

intronic

De novo

-

Trost2022 G

NUP210L

1-0175-004

chr1:
154088768-154088768

C

T

intronic

De novo

-

Yuen2017 G

NUP210L

1-0158-003

chr1:
154096644-154096644

C

CA

intronic

De novo

-

Trost2022 G

NUP210L

1-0175-004

chr1:
154043456-154043456

A

G

intronic

De novo

-

Yuen2017 G

NUP210L

2-0127-004

chr1:
154123786-154123788

ATC

TTT

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
	More