Variant Results

or

Results for "XPO4"

Variant Events: 28

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

XPO4

AU0540301

chr13:
21386600-21386600

G

A

intronic

De novo

-

Yuen2017 G

XPO4

AU3761301

chr13:
21469270-21469270

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO4

2-1297-004

chr13:
21498816-21498816

A

AGGG

intergenic

De novo

-

Yuen2017 G

XPO4

PN400530

chr13:
21395866-21395866

G

A

exonic

Unknown

stopgain

NM_022459

c.C1150T

p.R384X

37.0

-

Leblond2019 E

XPO4

11089.p1

chr13:
21354728-21354728

G

C

UTR3

De novo

-

Turner2016 G

XPO4

1-0126-004

chr13:
21416451-21416451

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO4

mAGRE1048

chr13:
21476856-21476857

GC

G

exonic

Maternal

frameshift deletion

NM_022459

c.21delG

p.G7fs

-

Cirnigliaro2023 G

XPO4

AU0452304

chr13:
21429353-21429353

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO4

13143.p1

chr13:
21496579-21496579

C

T

intergenic

De novo

-

Wilfert2021 G

XPO4

SSC06418

chr13:
21370323-21370323

G

A

exonic

stopgain

NM_022459

c.C2689T

p.Q897X

39.0

-

Antaki2022 GE

XPO4

2-1205-003

chr13:
21371657-21371657

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

XPO4

mAGRE2490

chr13:
21476856-21476857

GC

G

exonic

Paternal

frameshift deletion

NM_022459

c.21delG

p.G7fs

-

Cirnigliaro2023 G

XPO4

mAGRE2489

chr13:
21476856-21476857

GC

G

exonic

Paternal

frameshift deletion

NM_022459

c.21delG

p.G7fs

-

Cirnigliaro2023 G

XPO4

AU3729303

chr13:
21497106-21497106

T

C

intergenic

De novo

-

Yuen2017 G

XPO4

13017.p1

chr13:
21370323-21370323

G

A

exonic

De novo

stopgain

NM_022459

c.C2689T

p.Q897X

39.0

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

XPO4

2-0149-005

chr13:
21358314-21358315

AG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO4

AU0253-0202

chr13:
21371182-21371182

A

T

exonic

De novo

synonymous SNV

NM_022459

c.T2337A

p.L779L

-

Fu2022 E

XPO4

11969.p1

chr13:
21375125-21375125

A

C

exonic

De novo

nonsynonymous SNV

NM_022459

c.T1822G

p.L608V

3.681

2.0E-4

Satterstrom2020 E

XPO4

5903

chr13:
21375125-21375125

A

C

exonic

De novo

nonsynonymous SNV

NM_022459

c.T1822G

p.L608V

3.681

2.0E-4

Trost2022 G

XPO4

SP0093665

chr13:
21383426-21383426

G

T

intronic

De novo

-

Trost2022 G

XPO4

2-1290-003

chr13:
21503832-21503832

C

T

intergenic

De novo

-

Yuen2017 G

XPO4

4-0023-004

chr13:
21455873-21455873

T

C

intronic

De novo

-

Trost2022 G

XPO4

MT_14.3

chr13:
21468973-21468973

A

G

intronic

De novo

-

Trost2022 G

XPO4

SP0139757

chr13:
21426507-21426507

T

C

intronic

De novo

-

Trost2022 G

XPO4

AU1542303

chr13:
21387146-21387146

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO4

1-1018-003

chr13:
21445090-21445090

C

T

intronic

De novo

-

Trost2022 G

XPO4

SP0172698

chr13:
21417036-21417036

T

C

exonic

De novo

nonsynonymous SNV

NM_022459

c.A725G

p.N242S

25.1

-

Trost2022 G

XPO4

SP0050661

chr13:
21422480-21422480

T

C

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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