Variant Results

or

Results for "NOL10"

Variant Events: 17

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

NOL10

3-0530-000

chr2:
10794338-10794338

G

A

intronic

De novo

-

Trost2022 G

NOL10

4-0062-003

chr2:
10783703-10783704

AG

TTT

intronic

De novo

-

Trost2022 G

NOL10

AU2355301

chr2:
10800181-10800181

A

T

intronic

De novo

-

Trost2022 G

NOL10

2-1429-004

chr2:
10818666-10818666

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOL10

2-1232-003

chr2:
10797738-10797738

C

T

intronic

De novo

-

Trost2022 G

NOL10

2-0202-003

chr2:
10733367-10733367

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOL10

MSSNG00426-003

chr2:
10752476-10752476

C

T

intronic

De novo

-

Trost2022 G

NOL10

1-1223-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

NOL10

2-0270-004

chr2:
10779472-10779472

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOL10

SP0061949

chr2:
10747496-10747496

A

C

intronic

De novo

-

Fu2022 E

NOL10

AU3636301

chr2:
10854502-10854502

C

T

intergenic

De novo

-

Yuen2017 G

NOL10

10C116198

chr2:
10813599-10813599

C

T

intronic

De novo

-

1.014E-5

Kosmicki2017 E

NOL10

7-0103-003

chr2:
10847195-10847195

G

T

intergenic

De novo

-

Yuen2017 G

NOL10

AU246A

chr2:
10747348-10747348

A

C

exonic

De novo

nonsynonymous SNV

NM_001261392
NM_001261394
NM_024894

c.T1038G
c.T966G
c.T1116G

p.D346E
p.D322E
p.D372E

21.6

-

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

NOL10

2-0244-003

chr2:
10788287-10788287

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOL10

1-0113-003

chr2:
10845179-10845179

T

TA

intergenic

De novo

-

Yuen2016 G

NOL10

2-1339-003

chr2:
10746415-10746415

G

GGATGT

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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