Variant Results

or

Results for "STXBP3"

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

STXBP3

mAGRE5432

chr1:
109350030-109350030

C

T

exonic

Paternal

stopgain

NM_007269

c.C1543T

p.Q515X

36.0

-

Cirnigliaro2023 G

STXBP3

mAGRE2468

chr1:
109302705-109302705

C

T

exonic

Maternal

stopgain

NM_007269

c.C436T

p.Q146X

38.0

-

Cirnigliaro2023 G

STXBP3

SP0083624

chr1:
109294960-109294961

AT

A

intronic

De novo

-

Fu2022 E

STXBP3

mAGRE2466

chr1:
109302705-109302705

C

T

exonic

Maternal

stopgain

NM_007269

c.C436T

p.Q146X

38.0

-

Cirnigliaro2023 G

STXBP3

MSSNG00201-003

chr1:
109301383-109301383

A

T

intronic

De novo

-

Trost2022 G

STXBP3

SP0138691

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

STXBP3

SP0203240

chr1:
109315425-109315425

G

A

exonic

De novo

nonsynonymous SNV

NM_007269

c.G577A

p.G193R

20.6

2.49E-5

Trost2022 G

STXBP3

5-5162-003

chr1:
109306066-109306066

A

G

intronic

De novo

-

Trost2022 G

STXBP3

iHART2468

chr1:
109302705-109302705

C

T

exonic

Maternal

stopgain

NM_007269

c.C436T

p.Q146X

38.0

-

Ruzzo2019 G

STXBP3

AU3874302

chr1:
109327601-109327601

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

STXBP3

iHART2466

chr1:
109302705-109302705

C

T

exonic

Maternal

stopgain

NM_007269

c.C436T

p.Q146X

38.0

-

Ruzzo2019 G

STXBP3

DEASD_0397_001

chr1:
109315441-109315441

G

A

exonic

De novo

nonsynonymous SNV

NM_007269

c.G593A

p.S198N

13.23

-

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

STXBP3

SP0122608

chr1:
109289443-109289443

G

C

intronic

De novo

-

Trost2022 G

STXBP3

09C95782

chr1:
109321932-109321932

A

G

exonic

De novo

nonsynonymous SNV

NM_007269

c.A709G

p.I237V

19.21

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

STXBP3

SP0159108

chr1:
109319062-109319062

A

G

intronic

De novo

-

Trost2022 G

STXBP3

7-0232-003

chr1:
109315799-109315799

A

G

intronic

De novo

-

Trost2022 G

STXBP3

1031

chr1:
109351766-109351766

G

C

UTR3

De novo

-

Trost2022 G

STXBP3

7-0371-004

chr1:
109323499-109323499

C

T

intronic

De novo

-

Trost2022 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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