Variant Results

or

Results for "UNC13B"

Variant Events: 24

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

UNC13B

5-0025-004

chr9:
35361010-35361010

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC13B

Lim2017:70275

chr9:
35231139-35231139

C

G

exonic

De novo

synonymous SNV

NM_006377

c.C75G

p.T25T

-

Lim2017 E

UNC13B

3-0070-000

chr9:
35340737-35340737

A

G

intronic

De novo

-

Trost2022 G

UNC13B

2-1220-003

chr9:
35212164-35212164

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

UNC13B

REACH000738

chr9:
35189993-35189993

G

A

intronic

De novo

-

Trost2022 G

UNC13B

70275

chr9:
35231139-35231139

C

G

exonic

De novo

synonymous SNV

NM_006377

c.C75G

p.T25T

-

Fu2022 E
Trost2022 G

UNC13B

REACH000650

chr9:
35208759-35208759

C

T

intronic

De novo

-

Trost2022 G

UNC13B

AU0039303

chr9:
35182713-35182713

C

CTTT

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC13B

1-0347-003

chr9:
35261535-35261535

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC13B

A7

chr9:
35308739-35308739

T

G

intronic

De novo

-

Wu2018 G

UNC13B

13649.p1

chr9:
35212336-35212336

G

A

intronic

De novo

-

Turner2016 G

UNC13B

AU3885305

chr9:
35252788-35252788

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC13B

1265011

chr9:
35237726-35237726

A

G

exonic

De novo

synonymous SNV

NM_006377

c.A297G

p.L99L

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC13B

2-0298-003

chr9:
35328686-35328686

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC13B

mAGRE5063

chr9:
35236464-35236464

A

G

splicing

Paternal

splicing

18.91

-

Cirnigliaro2023 G

UNC13B

2-1254-003

chr9:
35365054-35365054

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

UNC13B

SP0008462

chr9:
35397780-35397780

C

T

intronic

De novo

-

Fu2022 E

UNC13B

A22

chr9:
35168624-35168624

T

TT

intronic

De novo

-

Wu2018 G

UNC13B

NDAR_INVJG302HJQ_wes1

chr9:
35382420-35382420

G

A

exonic

De novo

synonymous SNV

NM_006377

c.G2475A

p.L825L

-

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

UNC13B

12310.p1

chr9:
35231139-35231139

C

G

exonic

De novo

synonymous SNV

NM_006377

c.C75G

p.T25T

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

UNC13B

13645.p1

chr9:
35381599-35381599

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_006377

c.G2291C

p.R764P

17.45

-

Ji2016 E
Krumm2015 E
Krupp2017 E

UNC13B

SP0043962

chr9:
35403770-35403770

G

A

exonic

De novo

nonsynonymous SNV

NM_006377

c.G4516A

p.E1506K

17.86

8.254E-6

Fu2022 E
Zhou2022 GE

UNC13B

SP0083880

chr9:
35295719-35295719

G

A

exonic

De novo

nonsynonymous SNV

NM_006377

c.G553A

p.D185N

34.0

2.471E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC13B

Wang2023:75

chr9:
35381120-35381120

G

A

exonic

De novo

nonsynonymous SNV

NM_006377

c.G2152A

p.V718I

33.0

3.0E-4

Wang2023 E

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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