Variant Results

or

Results for "TNPO3"

Variant Events: 27

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

TNPO3

SP0325438

chr7:
128619141-128619141

G

A

exonic

stopgain

NM_001191028
NM_012470

c.C1765T
c.C1957T

p.R589X
p.R653X

43.0

-

Zhou2022 GE

TNPO3

1-0382-003

chr7:
128660889-128660889

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNPO3

SP0189936

chr7:
128626882-128626882

G

A

exonic

De novo

stopgain

NM_012470

c.C1591T

p.R531X

42.0

-

Trost2022 G
Zhou2022 GE

TNPO3

1-0052-003

chr7:
128651436-128651436

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNPO3

SP0070951

chr7:
128658082-128658082

C

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.G250T
c.G250T

p.A84S
p.A84S

11.35

8.238E-6

Trost2022 G
Zhou2022 GE

TNPO3

Lim2017:68527

chr7:
128622321-128622321

G

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.C1648T
c.C1840T

p.R550C
p.R614C

20.3

8.248E-6

Lim2017 E

TNPO3

2-0142-004

chr7:
128631455-128631455

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNPO3

AU3918301

chr7:
128633206-128633206

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNPO3

NDAR_INVHB056KJT_wes1

chr7:
128610260-128610260

G

C

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.C2348G
c.C2540G

p.P783R
p.P847R

19.23

-

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

TNPO3

10-1149-003

chr7:
128640352-128640352

T

C

intronic

De novo

-

Trost2022 G

TNPO3

1-0738-003

chr7:
128681640-128681640

C

T

intronic

De novo

-

Trost2022 G

TNPO3

MSSNG00338-004

chr7:
128595912-128595912

C

T

intronic

De novo

-

Trost2022 G

TNPO3

5-0064-003

chr7:
128668635-128668635

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNPO3

7-0365-003

chr7:
128599847-128599847

G

A

intronic

De novo

-

Trost2022 G

TNPO3

AU4033305

chr7:
128637617-128637617

T

C

intronic

De novo

-

Yuen2017 G

TNPO3

AU2639301

chr7:
128595059-128595059

G

A

UTR3

De novo

-

Trost2022 G

TNPO3

SP0070951

chr7:
128658100-128658100

G

C

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.C232G
c.C232G

p.L78V
p.L78V

23.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TNPO3

SP0129828

chr7:
128640623-128640623

T

C

splicing

De novo

splicing

21.3

-

Fu2022 E
Zhou2022 GE

TNPO3

SP0077275

chr7:
128637564-128637564

C

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.G1037T
c.G1037T

p.W346L
p.W346L

29.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TNPO3

11169.p1

chr7:
128622321-128622321

G

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.C1648T
c.C1840T

p.R550C
p.R614C

20.3

8.248E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TNPO3

Wang2023:440

chr7:
128626800-128626800

G

A

exonic

De novo

nonsynonymous SNV

NM_012470

c.C1673T

p.A558V

33.0

-

Wang2023 E

TNPO3

mAGRE5425

chr7:
128610257-128610258

TA

T

exonic

Maternal

frameshift deletion

NM_001191028
NM_012470

c.2350delT
c.2542delT

p.Y784fs
p.Y848fs

-

4.12E-5

Cirnigliaro2023 G

TNPO3

mAGRE5423

chr7:
128610257-128610258

TA

T

exonic

Maternal

frameshift deletion

NM_001191028
NM_012470

c.2350delT
c.2542delT

p.Y784fs
p.Y848fs

-

4.12E-5

Cirnigliaro2023 G

TNPO3

SP0150569

chr7:
128627033-128627033

T

A

intronic

De novo

-

Fu2022 E

TNPO3

68527

chr7:
128622321-128622321

G

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.C1648T
c.C1840T

p.R550C
p.R614C

20.3

8.248E-6

Fu2022 E
Trost2022 G

TNPO3

SP0131184

chr7:
128637558-128637558

C

A

exonic

De novo

nonsynonymous SNV

NM_001191028
NM_012470

c.G1043T
c.G1043T

p.R348L
p.R348L

34.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TNPO3

AU3302302

chr7:
128615664-128615664

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 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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