Variant Results

or

Results for "SYNE3"

Variant Events: 33

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

SYNE3

2-1429-004

chr14:
95886251-95886251

G

A

intronic

De novo

-

Yuen2017 G

SYNE3

7-0438-003

chr14:
95895950-95895950

C

T

intronic

De novo

-

Trost2022 G

SYNE3

SP0119297

chr14:
95923453-95923453

A

C

intronic

De novo

-

Trost2022 G

SYNE3

SP0101527

chr14:
95923455-95923455

A

C

intronic

De novo

-

Trost2022 G

SYNE3

mAGRE4444

chr14:
95921815-95921815

C

A

exonic

Maternal

stopgain

NM_152592

c.G1036T

p.E346X

37.0

8.348E-6

Cirnigliaro2023 G

SYNE3

SP0047988

chr14:
95932399-95932399

G

T

exonic

De novo

nonsynonymous SNV

NM_152592

c.C496A

p.Q166K

17.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SYNE3

SP0181224

chr14:
95918683-95918684

AC

A

exonic

De novo

frameshift deletion

NM_152592

c.1174delG

p.V392fs

-

Trost2022 G

SYNE3

mAGRE4443

chr14:
95921815-95921815

C

A

exonic

Maternal

stopgain

NM_152592

c.G1036T

p.E346X

37.0

8.348E-6

Cirnigliaro2023 G

SYNE3

SP0101527

chr14:
95923453-95923453

A

C

intronic

De novo

-

Trost2022 G

SYNE3

MSSNG00383-003

chr14:
95899996-95899997

CA

C

intronic

De novo

-

Trost2022 G

SYNE3

MT_179.3

chr14:
95916529-95916529

G

A

intronic

De novo

-

Trost2022 G

SYNE3

AU1988301

chr14:
95896347-95896347

G

A

intronic

De novo

-

Trost2022 G

SYNE3

AU1988301

chr14:
95896351-95896351

G

A

intronic

De novo

-

Trost2022 G

SYNE3

366-09-111835

chr14:
95983585-95983585

G

A

intergenic

De novo

6.582

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SYNE3

SP0118912

chr14:
95916345-95916345

G

A

exonic

De novo

synonymous SNV

NM_152592

c.C1372T

p.L458L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SYNE3

1-0670-003

chr14:
95929282-95929282

C

A

intronic

De novo

-

Trost2022 G

SYNE3

SP0085275

chr14:
95922049-95922049

C

A

exonic

De novo

nonsynonymous SNV

NM_152592

c.G802T

p.D268Y

10.89

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SYNE3

SP0054520

chr14:
95932265-95932265

C

T

intronic

De novo

-

Fu2022 E
Tan2024 GE
Trost2022 G
Zhou2022 GE

SYNE3

SP0119297

chr14:
95923455-95923455

A

C

intronic

De novo

-

Trost2022 G

SYNE3

2-1486-003

chr14:
95948001-95948001

G

T

intergenic

De novo

-

Yuen2017 G

SYNE3

SP0092269

chr14:
95918685-95918685

C

T

exonic

De novo

synonymous SNV

NM_152592

c.G1173A

p.R391R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SYNE3

SP0126058

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

SYNE3

IBS-ASD-9883-blood-wgs-ILLUMINA

chr14:
95881613-95881613

G

GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

intergenic

De novo

-

Kim2024 G

SYNE3

IBS-ASD-9713-blood-wgs-ILLUMINA

chr14:
95881613-95881613

G

GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

intergenic

De novo

-

Kim2024 G

SYNE3

7-0059-003

chr14:
95985817-95985817

G

A

intergenic

De novo

-

Yuen2017 G

SYNE3

IBS-ASD-5333-blood-wgs-ILLUMINA

chr14:
95881613-95881613

G

GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

intergenic

De novo

-

Kim2024 G

SYNE3

IBS-ASD-15833-blood-wgs-ILLUMINA

chr14:
95874755-95874755

A

G

ncRNA_exonic

De novo

-

Kim2024 G

SYNE3

74-0115

chr14:
95954490-95954490

A

C

intergenic

De novo

-

Michaelson2012 G

SYNE3

2-0223-003

chr14:
95886214-95886214

T

TGGTAAG

intronic

De novo

-

Yuen2017 G

SYNE3

IBS-ASD-19953-blood-wgs-ILLUMINA

chr14:
95960547-95960547

T

C

intergenic

De novo

-

Kim2024 G

SYNE3

2-1342-003

chr14:
95921033-95921033

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SYNE3

AU0638302

chr14:
95946009-95946009

C

T

intergenic

De novo

-

Yuen2017 G

SYNE3

BRK-24-01

chr14:
95906379-95906379

C

T

exonic

De novo

nonsynonymous SNV

NM_152592

c.G1945A

p.E649K

20.3

-

Abdi2023 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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