Variant Results

or

Results for "STXBP5"

Variant Events: 27

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

STXBP5

ASC_18A073

chr6:
147635046-147635046

C

A

exonic

De novo

nonsynonymous SNV

NM_001127715
NM_139244

c.C1172A
c.C1172A

p.P391H
p.P391H

28.9

-

Fu2022 E

STXBP5

SP0117040

chr6:
147684688-147684688

G

A

exonic

De novo

synonymous SNV

NM_139244
NM_001127715

c.G2655A
c.G2763A

p.K885K
p.K921K

-

Fu2022 E

STXBP5

AU2777302

chr6:
147683205-147683205

G

A

intronic

De novo

-

Yuen2017 G

STXBP5

AU2129301

chr6:
147708305-147708305

T

G

UTR3

De novo

-

Yuen2017 G

STXBP5

04C25762

chr6:
147684764-147684764

C

T

exonic

Unknown

nonsynonymous SNV

NM_139244
NM_001127715

c.C2731T
c.C2839T

p.R911C
p.R947C

19.06

1.655E-5

Stessman2017 T

STXBP5

SP0061525

chr6:
147560230-147560230

T

C

intronic

De novo

-

Fu2022 E

STXBP5

M26811

chr6:
147694910-147694910

C

T

exonic

Paternal

nonsynonymous SNV

NM_139244
NM_001127715

c.C3017T
c.C3125T

p.A1006V
p.A1042V

34.0

8.245E-6

Guo2018 T
Wang2016 T

STXBP5

2-1452-003

chr6:
147737613-147737613

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

STXBP5

2-1345-003

chr6:
147648225-147648225

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

STXBP5

AU1207301

chr6:
147684764-147684764

C

T

exonic

Unknown

nonsynonymous SNV

NM_139244
NM_001127715

c.C2731T
c.C2839T

p.R911C
p.R947C

19.06

1.655E-5

Stessman2017 T

STXBP5

AU1933301

chr6:
147565980-147565980

T

G

intronic

De novo

-

Yuen2017 G

STXBP5

AU1933301

chr6:
147640014-147640014

C

G

intronic

De novo

-

Yuen2017 G

STXBP5

AU075703

chr6:
147666813-147666813

A

C

intronic

De novo

-

Yuen2017 G

STXBP5

2-1486-003

chr6:
147550882-147550882

C

A

intronic

De novo

-

Yuen2017 G

STXBP5

AU4479301

chr6:
147544039-147544039

G

C

intronic

De novo

-

Yuen2017 G

STXBP5

211-5213-3

chr6:
147599216-147599217

GG

A

exonic

Paternal

nonframeshift substitution

NM_001127715
NM_139244

c.715_715A
c.715_715A

N/A
N/A

-

Stessman2017 T

STXBP5

AU2072302

chr6:
147757436-147757436

C

T

intergenic

De novo

-

Yuen2017 G

STXBP5

1-0669-003

chr6:
147704069-147704069

G

A

exonic

De novo

nonsynonymous SNV

NM_139244
NM_001127715

c.G3241A
c.G3349A

p.D1081N
p.D1117N

17.86

8.252E-6

Yuen2017 G

STXBP5

AU3779304

chr6:
147790456-147790456

C

T

intergenic

De novo

-

Yuen2017 G

STXBP5

2-1114-003

chr6:
147775976-147775976

C

A

intergenic

De novo

-

Yuen2017 G

STXBP5

AU060803

chr6:
147588889-147588889

C

T

intronic

De novo

-

Yuen2017 G

STXBP5

Cukier2014:37994

chr6:
147635108-147635108

C

G

exonic

Unknown

nonsynonymous SNV

NM_001127715
NM_139244

c.C1234G
c.C1234G

p.L412V
p.L412V

15.62

0.0034

Cukier2014 E

STXBP5

Cukier2014:7623

chr6:
147636753-147636753

A

G

exonic

Unknown

nonsynonymous SNV

NM_001127715
NM_139244

c.A1505G
c.A1505G

p.Y502C
p.Y502C

16.24

0.0036

Cukier2014 E

STXBP5

AU3702307

chr6:
147784739-147784739

C

T

intergenic

De novo

-

Yuen2017 G

STXBP5

NDAR_INVGC149CAJ_wes1

chr6:
147635412-147635412

A

G

exonic

De novo

nonsynonymous SNV

NM_001127715
NM_139244

c.A1306G
c.A1306G

p.N436D
p.N436D

19.88

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

STXBP5

DEASD_0042_002

chr6:
147680342-147680343

TC

T

exonic

De novo

frameshift deletion

NM_139244
NM_001127715

c.2321delC
c.2429delC

p.S774fs
p.S810fs

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

STXBP5

U3V4P

chr6:
147680250-147680250

G

A

exonic

Inherited

nonsynonymous SNV

NM_139244
NM_001127715

c.G2228A
c.G2336A

p.R743Q
p.R779Q

36.0

8.286E-5

Stessman2017 T

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
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