Variant Results

or

or

Results for "UNC13A"

Variant Events: 21

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

UNC13A

NDAR_INVXP232UMQ_wes1

chr19:
17743591-17743591

G

T

exonic

De novo

nonsynonymous SNV

NM_001080421

c.C3428A

p.A1143E

17.14

-

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

UNC13A

13757.p1

chr19:
17738631-17738631

T

G

intronic

De novo

-

Satterstrom2020 E

UNC13A

11469.p1

chr19:
17762911-17762912

CT

C

intronic

De novo

-

-

Wilfert2021 G

UNC13A

7-0024-003

chr19:
17755006-17755006

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

UNC13A

TAS_F0236Y

chr19:
17728585-17728585

C

T

exonic

De novo

nonsynonymous SNV

NM_001080421

c.G4484A

p.R1495H

12.11

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC13A

09C99813

chr19:
17747013-17747013

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

UNC13A

AU003405

chr19:
17822085-17822085

A

C

intergenic

De novo

-

-

Yuen2017 G

UNC13A

1-0531-003

chr19:
17809740-17809740

T

C

intergenic

De novo

-

-

Yuen2017 G

UNC13A

PN400100

chr19:
17737533-17737533

C

T

exonic

Unknown

nonsynonymous SNV

NM_001080421

c.G3982A

p.G1328S

23.9

-

Leblond2019 E

UNC13A

SP0071182

chr19:
17743610-17743610

G

A

exonic

De novo

nonsynonymous SNV

NM_001080421

c.C3409T

p.R1137C

13.18

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC13A

PN400498

chr19:
17752254-17752254

C

T

exonic

Unknown

nonsynonymous SNV

NM_001080421

c.G2584A

p.V862M

20.7

-

Leblond2019 E

UNC13A

2-1182-003

chr19:
17747013-17747013

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

UNC13A

13676.p1

chr19:
17720779-17720779

C

T

exonic

Mosaic

stopgain

NM_001080421

c.G4781A

p.W1594X

43.0

-

Krupp2017 E

UNC13A

SP0247473

chr19:
17769098-17769098

T

G

intronic

De novo

-

-

Trost2022 G

UNC13A

SP0085398

chr19:
17767141-17767141

C

T

exonic

De novo

synonymous SNV

NM_001080421

c.G834A

p.E278E

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC13A

MSSNG00255-004

chr19:
17759562-17759562

T

A

intronic

De novo

-

-

Trost2022 G

UNC13A

SP0125930

chr19:
17759409-17759409

C

T

exonic

De novo

synonymous SNV

NM_001080421

c.G1647A

p.S549S

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC13A

SP0037923

chr19:
17769098-17769098

T

G

intronic

De novo

-

-

Trost2022 G

UNC13A

AU075210

chr19:
17782299-17782299

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

UNC13A

6265

chr19:
17738631-17738631

T

G

intronic

De novo

-

Trost2022 G

UNC13A

SP0150669

chr19:
17749855-17749855

G

A

intronic

De novo

-

-

Trost2022 G

Source Variant Information

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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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