Variant Results

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Results for "IPO7"

Variant Events: 18

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

IPO7

1-1109-003

chr11:
9465895-9465895

C

CT

intronic

De novo

-

-

Trost2022 G

IPO7

1-0597-003

chr11:
9439353-9439353

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IPO7

Bruno2021:XVII

chr11:
9446481-9446481

T

C

exonic

De novo

nonsynonymous SNV

NM_006391

c.T1162C

p.S388P

27.5

-

Bruno2021 E

IPO7

1-0144-004

chr11:
9439493-9439495

CAG

T

intronic

De novo

-

-

Trost2022 G

IPO7

3-0847-000

chr11:
9454464-9454464

C

T

intronic

De novo

-

-

Trost2022 G

IPO7

5-0040-003

chr11:
9439411-9439411

T

C

intronic

De novo

-

-

Trost2022 G

IPO7

2-1366-003

chr11:
9439687-9439687

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IPO7

5-0040-003

chr11:
9439414-9439416

CAA

TAC

intronic

De novo

-

-

Trost2022 G

IPO7

SP0099595

chr11:
9455402-9455402

A

G

intronic

De novo

-

-

Fu2022 E

IPO7

2-1366-004

chr11:
9439687-9439687

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IPO7

1-0009-004

chr11:
9407992-9407992

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IPO7

AU2292302

chr11:
9414205-9414208

TACA

TA

intronic

De novo

-

-

Yuen2017 G

IPO7

AU2292301

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

IPO7

4-0028-003

chr11:
9432234-9432234

C

T

intronic

De novo

-

-

Trost2022 G

IPO7

5-0040-003

chr11:
9439406-9439408

TGT

CCC

intronic

De novo

-

-

Trost2022 G

IPO7

2-0300-004

chr11:
9439448-9439448

T

C

intronic

De novo

-

-

Yuen2017 G

IPO7

MT_168.3

chr11:
9418223-9418223

A

G

intronic

De novo

-

-

Trost2022 G

IPO7

21236-33440

chr11:
9441980-9441980

A

G

exonic

nonsynonymous SNV

NM_006391

c.A749G

p.D250G

25.1

-

Callaghan2019 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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