Variant Results

or

Results for "SNAPC3"

Variant Events: 18

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

SNAPC3

80001103390

chr9:
15422919-15422919

G

C

exonic

De novo

synonymous SNV

NM_001039697

c.G42C

p.V14V

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SNAPC3

5-0009-003

chr9:
15447667-15447667

A

C

intronic

De novo

-

Trost2022 G

SNAPC3

3-0113-000

chr9:
15448030-15448030

C

G

intronic

De novo

-

Trost2022 G

SNAPC3

2-1818-003

chr9:
15440045-15440045

A

T

intronic

De novo

-

Trost2022 G

SNAPC3

2-1764-003

chr9:
15442015-15442015

G

A

intronic

De novo

-

Trost2022 G

SNAPC3

2-1230-003

chr9:
15429169-15429169

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNAPC3

7-0253-005

chr9:
15425269-15425269

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNAPC3

iHART2416

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Ruzzo2019 G

SNAPC3

iHART2415

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Ruzzo2019 G

SNAPC3

12591.p1

chr9:
15459725-15459725

C

T

exonic

De novo

nonsynonymous SNV

NM_001039697

c.C1097T

p.T366M

28.3

1.65E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SNAPC3

iHART2417

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Ruzzo2019 G

SNAPC3

mAGRE2417

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Cirnigliaro2023 G

SNAPC3

mAGRE2416

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Cirnigliaro2023 G

SNAPC3

mAGRE2415

chr9:
15423985-15423985

G

A

splicing

Maternal

splicing

21.9

-

Cirnigliaro2023 G

SNAPC3

2-1730-003

chr9:
15427567-15427567

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNAPC3

AU4007301

chr9:
15460270-15460270

G

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SNAPC3

SSC05533

chr9:
15459725-15459725

C

T

exonic

De novo

nonsynonymous SNV

NM_001039697

c.C1097T

p.T366M

28.3

1.65E-5

Fu2022 E
Lim2017 E
Trost2022 G

SNAPC3

2-0285-003

chr9:
15454740-15454740

G

C

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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