Variant Results

or

Results for "SEPT9"

Variant Events: 40

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

SEPT9

PN400259

chr17:
75484879-75484879

C

T

exonic

Unknown

nonsynonymous SNV

NM_001113495
NM_001113496
NM_001293696
NM_001293697
NM_001293698
NM_001113493
NM_001113494
NM_001293695
NM_006640
NM_001113491
NM_001113492

c.C859T
c.C442T
c.C523T
c.C442T
c.C442T
c.C1174T
c.C703T
c.C1138T
c.C1141T
c.C1195T
c.C703T

p.R287C
p.R148C
p.R175C
p.R148C
p.R148C
p.R392C
p.R235C
p.R380C
p.R381C
p.R399C
p.R235C

20.2

-

Leblond2019 E

SEPT9

3-0432-000

chr17:
75480607-75480607

T

G

intronic

De novo

-

Trost2022 G

SEPT9

MSSNG00376-003

chr17:
75494279-75494279

C

T

intronic

De novo

-

Trost2022 G

SEPT9

MSSNG00434-003

chr17:
75475498-75475498

C

G

intronic

De novo

-

Trost2022 G

SEPT9

1-0025-004

chr17:
75418752-75418752

C

T

intronic

De novo

-

Yuen2017 G

SEPT9

2-0012-004

chr17:
75477629-75477629

C

G

intronic

De novo

-

Trost2022 G

SEPT9

1-0231-004

chr17:
75498368-75498369

CA

C

intergenic

De novo

-

Yuen2017 G

SEPT9

1-0417-003

chr17:
75452693-75452693

A

G

intronic

De novo

-

Trost2022 G

SEPT9

1-1148-003

chr17:
75458023-75458023

A

G

intronic

De novo

-

Trost2022 G

SEPT9

7-0104-003

chr17:
75497811-75497811

C

T

intergenic

De novo

-

Yuen2017 G

SEPT9

PN400261

chr17:
75494670-75494670

G

A

exonic

Unknown

nonsynonymous SNV

NM_001113495
NM_001113496
NM_001293696
NM_001293697
NM_001293698
NM_001113493
NM_001113494
NM_001293695
NM_006640
NM_001113491
NM_001113492

c.G1355A
c.G938A
c.G1019A
c.G938A
c.G938A
c.G1670A
c.G1199A
c.G1634A
c.G1637A
c.G1691A
c.G1199A

p.R452H
p.R313H
p.R340H
p.R313H
p.R313H
p.R557H
p.R400H
p.R545H
p.R546H
p.R564H
p.R400H

28.0

1.0E-4

Leblond2019 E

SEPT9

Cukier2014:7713

chr17:
75398290-75398290

C

T

exonic

Unknown

nonsynonymous SNV

NM_001113493
NM_001293695
NM_006640
NM_001113491

c.C205T
c.C169T
c.C172T
c.C226T

p.R69C
p.R57C
p.R58C
p.R76C

16.52

4.0E-4

Cukier2014 E

SEPT9

7-0253-003

chr17:
75503281-75503281

C

T

intergenic

De novo

-

Yuen2017 G

SEPT9

EGAN00001101164

chr17:
75441623-75441623

C

T

intronic

De novo

2.08

-

Satterstrom2020 E
Trost2022 G

SEPT9

AU065304

chr17:
75516228-75516228

A

G

intergenic

De novo

-

Yuen2017 G

SEPT9

2-0006-003

chr17:
75417142-75417142

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

111297

chr17:
75483592-75483592

G

A

exonic

nonsynonymous SNV

NM_001113495
NM_001113496
NM_001293696
NM_001293697
NM_001293698
NM_001113493
NM_001113494
NM_001293695
NM_006640
NM_001113491
NM_001113492

c.G664A
c.G247A
c.G328A
c.G247A
c.G247A
c.G979A
c.G508A
c.G943A
c.G946A
c.G1000A
c.G508A

p.E222K
p.E83K
p.E110K
p.E83K
p.E83K
p.E327K
p.E170K
p.E315K
p.E316K
p.E334K
p.E170K

25.7

-

Woodbury-Smith2022 E

SEPT9

2-1605-004

chr17:
75304953-75304953

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

AU046706

chr17:
75344612-75344612

C

T

intronic

De novo

-

Yuen2017 G

SEPT9

1-0158-003

chr17:
75306842-75306842

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

12175.p1

chr17:
75453474-75453474

C

T

intronic

De novo

-

Turner2016 G

SEPT9

AU2410302

chr17:
75499067-75499067

C

G

intergenic

De novo

-

Yuen2017 G

SEPT9

AU059003

chr17:
75308006-75308006

C

A

intronic

De novo

-

Trost2022 G

SEPT9

2-1718-003

chr17:
75382009-75382009

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

MSSNG00111-003

chr17:
75317042-75317042

A

G

intronic

De novo

-

Trost2022 G

SEPT9

MSSNG00423-004

chr17:
75301482-75301482

C

T

intronic

De novo

-

Trost2022 G

SEPT9

REACH000627

chr17:
75305285-75305285

C

T

intronic

De novo

-

Trost2022 G

SEPT9

1-0382-003

chr17:
75372722-75372722

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

AU3806304

chr17:
75365041-75365041

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEPT9

SP0090999

chr17:
75315705-75315705

G

A

UTR5

De novo

-

Fu2022 E
Trost2022 G

SEPT9

MSSNG00249-003

chr17:
75442401-75442401

C

T

intronic

De novo

-

Trost2022 G

SEPT9

SP0089372

chr17:
75315700-75315700

C

T

UTR5

De novo

-

Fu2022 E
Trost2022 G

SEPT9

7-0388-003

chr17:
75451104-75451104

C

T

intronic

De novo

-

Trost2022 G

SEPT9

4-0064-003

chr17:
75409907-75409907

C

T

intronic

De novo

-

Trost2022 G

SEPT9

SP0043184

chr17:
75483689-75483689

C

CTGGTGCGGTGTG

intronic

De novo

-

Fu2022 E

SEPT9

7-0286-003A

chr17:
75438371-75438371

C

T

intronic

De novo

-

Trost2022 G

SEPT9

REACH000219

chr17:
75372526-75372526

T

C

intronic

De novo

-

Trost2022 G

SEPT9

3-0873-000

chr17:
75406115-75406115

G

A

intronic

De novo

-

Trost2022 G

SEPT9

MSSNG00043-003

chr17:
75353751-75353751

C

T

intronic

De novo

-

Trost2022 G

SEPT9

5-5233-003

chr17:
75372446-75372446

C

T

UTR5

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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