Variant Results

or

Results for "SYT9"

Variant Events: 39

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

SYT9

2-1460-003

chr11:
7295313-7295313

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

AU2022302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SYT9

AU4327303

chr11:
7281595-7281595

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

10-0005-003

chr11:
7351996-7351996

T

C

intronic

De novo

-

Trost2022 G

SYT9

1-0044-003

chr11:
7352009-7352009

C

G

intronic

De novo

-

Trost2022 G

SYT9

REACH000387

chr11:
7345548-7345548

G

A

intronic

De novo

-

Trost2022 G

SYT9

10-0005-003

chr11:
7351988-7351990

TGT

CGC

intronic

De novo

-

Trost2022 G

SYT9

AU056604

chr11:
7356234-7356234

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

1-0010-005

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

4-0046-004

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

1-0044-003

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

1-0300-003

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

2-1093-009

chr11:
7365996-7365996

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

4-0046-004

chr11:
7352009-7352009

C

G

intronic

De novo

-

Trost2022 G

SYT9

1-0161-004

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

1-0300-003

chr11:
7352009-7352009

C

G

intronic

De novo

-

Trost2022 G

SYT9

10-0005-003

chr11:
7352009-7352009

C

G

intronic

De novo

-

Trost2022 G

SYT9

MSSNG00415-003

chr11:
7366065-7366065

G

A

intronic

De novo

-

Trost2022 G

SYT9

AU055603

chr11:
7402031-7402031

A

C

intronic

De novo

-

Trost2022 G

SYT9

AU2310301

chr11:
7360398-7360398

T

G

intronic

De novo

-

Trost2022 G

SYT9

1-0402-004

chr11:
7333649-7333649

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

5-5046-006

chr11:
7364657-7364657

T

G

intronic

De novo

-

Trost2022 G

SYT9

5-0004-003

chr11:
7352261-7352264

TCAA

CTC

intronic

De novo

-

Trost2022 G

SYT9

5-0004-003

chr11:
7352272-7352276

ACTCT

GCCCG

intronic

De novo

-

Trost2022 G

SYT9

10-0005-003

chr11:
7352012-7352013

TT

CC

intronic

De novo

-

Trost2022 G

SYT9

1-0380-003

chr11:
7352261-7352264

TCAA

CTC

intronic

De novo

-

Trost2022 G

SYT9

MSSNG00062-003

chr11:
7487163-7487163

T

G

intronic

De novo

-

Trost2022 G

SYT9

AU3649304

chr11:
7403734-7403734

G

C

intronic

De novo

-

Yuen2017 G

SYT9

MSSNG00031-003

chr11:
7429605-7429605

C

T

intronic

De novo

-

Trost2022 G

SYT9

3-0202-000

chr11:
7444335-7444336

TG

T

intronic

De novo

-

Trost2022 G

SYT9

7-0464-003

chr11:
7405862-7405862

A

G

intronic

De novo

-

Trost2022 G

SYT9

2-0162-003

chr11:
7425623-7425623

G

A

intronic

De novo

-

Trost2022 G

SYT9

mAGRE4975

chr11:
7488026-7488026

C

T

exonic

Maternal

stopgain

NM_175733

c.C1471T

p.R491X

39.0

4.125E-5

Cirnigliaro2023 G

SYT9

2-1452-003

chr11:
7414830-7414830

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SYT9

13775.p1

chr11:
7487979-7487979

T

A

intronic

De novo

-

2.65E-5

Satterstrom2020 E
Trost2022 G

SYT9

5-0116-003

chr11:
7328004-7328004

C

T

intronic

De novo

-

Yuen2017 G

SYT9

AU005214

chr11:
7320684-7320684

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYT9

111311

chr11:
7334958-7334958

A

G

exonic

nonsynonymous SNV

NM_175733

c.A830G

p.H277R

23.8

2.471E-5

Woodbury-Smith2022 E

SYT9

AU3605303

chr11:
7439940-7439940

C

G

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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