Variant Results

or

or

Results for "SEPT7"

Variant Events: 15

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

SEPT7

AU3937301

chr7:
36027420-36027420

C

G

intergenic

De novo

-

-

Yuen2017 G

SEPT7

MSSNG00031-004

chr7:
35847744-35847744

G

GT

intronic

De novo

-

-

Trost2022 G

SEPT7

1-1100-003

chr7:
35849415-35849415

G

A

intronic

De novo

-

-

Trost2022 G

SEPT7

1-0520-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

SEPT7

12680.p1

chr7:
36021062-36021062

G

C

intergenic

De novo

-

-

Turner2016 G

SEPT7

AU057405

chr7:
35955295-35955295

G

T

intergenic

De novo

-

-

Yuen2017 G

SEPT7

MSSNG00004-003

chr7:
35941127-35941127

G

A

intronic

De novo

-

-

Trost2022 G

SEPT7

3-0208-000

chr7:
35936260-35936260

A

G

intronic

De novo

-

-

Trost2022 G

SEPT7

1-0616-003

chr7:
35937317-35937317

G

T

intronic

De novo

-

-

Trost2022 G

SEPT7

MSSNG00347-003

chr7:
35897178-35897178

T

A

intronic

De novo

-

-

Trost2022 G

SEPT7

MSSNG00054-005

chr7:
35905700-35905700

G

A

intronic

De novo

-

-

Trost2022 G

SEPT7

1-0936-003

chr7:
35856953-35856953

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SEPT7

4-0062-003

chr7:
35868614-35868616

CAT

AAA

intronic

De novo

-

-

Trost2022 G

SEPT7

4-0073-003

chr7:
35868614-35868616

CAT

AAA

intronic

De novo

-

-

Trost2022 G

SEPT7

SP0144587

chr7:
35942695-35942695

C

T

exonic

De novo

nonsynonymous SNV

NM_001242956
NM_001011553

c.C1036T
c.C1141T

p.R346C
p.R381C

16.53

-

Fu2022 E
Zhou2022 GE

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