Variant Results

or

Results for "SYNE1"

Variant Events: 72

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

SYNE1

SSC11661

chr6:
152647554-152647554

G

A

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C14957T
c.C15170T

p.A4986V
p.A5057V

12.16

-

Fu2022 E
Lim2017 E

SYNE1

AU218A

chr6:
152673328-152673328

C

T

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.G11369A
c.G11414A

p.R3790Q
p.R3805Q

23.6

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SYNE1

AC05-0003-01

chr6:
152728223-152728223

C

T

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.G6670A
c.G6649A

p.V2224I
p.V2217I

8.968

8.239E-5

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

SYNE1

AU1698302

chr6:
152871340-152871343

TAAA

TAA

intronic

De novo

-

Yuen2017 G

SYNE1

SSC11511

chr6:
152673266-152673266

T

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.A11431G
c.A11476G

p.K3811E
p.K3826E

14.55

-

Fu2022 E
Lim2017 E

SYNE1

3-0661-000

chr6:
152697977-152697977

C

G

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.G9101C
c.G9080C

p.C3034S
p.C3027S

22.7

-

Yuen2017 G

SYNE1

AU058104

chr6:
152800488-152800488

G

A

intronic

De novo

-

Yuen2017 G

SYNE1

AU028305

chr6:
152910945-152910945

A

G

intronic

De novo

-

Yuen2017 G

SYNE1

SP0091993

chr6:
152826582-152826582

G

A

intronic

De novo

-

Fu2022 E

SYNE1

PN400104

chr6:
152464786-152464786

G

A

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.C24947T
c.C25091T

p.P8316L
p.P8364L

34.0

0.0018

Leblond2019 E

SYNE1

SP0003812

chr6:
152737444-152737444

T

TA

intronic

De novo

-

Fu2022 E

SYNE1

AU3874301

chr6:
152730708-152730708

A

G

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.T6388C
c.T6367C

p.W2130R
p.W2123R

8.761

-

Yuen2017 G

SYNE1

Codina-Sola2015:ASD_35

chr6:
152476160-152476160

C

T

exonic

Maternal

nonsynonymous SNV

NM_033071
NM_182961

c.G23783A
c.G23996A

p.R7928Q
p.R7999Q

27.8

2.481E-5

Codina-Sola2015 E

SYNE1

SP0052340

chr6:
152523011-152523011

T

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.A22880G
c.A23093G

p.Q7627R
p.Q7698R

7.422

-

Fu2022 E

SYNE1

SP0065049

chr6:
152510406-152510406

C

T

exonic

De novo

stopgain

NM_033071
NM_182961

c.G23069A
c.G23282A

p.W7690X
p.W7761X

50.0

-

Fu2022 E

SYNE1

AU024607

chr6:
152659936-152659936

A

G

intronic

De novo

-

Yuen2017 G

SYNE1

SP0033305

chr6:
152683493-152683493

T

G

intronic

De novo

-

Fu2022 E

SYNE1

1-0265-004

chr6:
152615473-152615473

T

C

intronic

De novo

-

Yuen2017 G

SYNE1

2K001

chr6:
152777063-152777063

C

T

exonic

De novo

synonymous SNV

NM_033071
NM_182961

c.G2706A
c.G2685A

p.T902T
p.T895T

-

3.296E-5

Fu2022 E
Satterstrom2020 E

SYNE1

SP0059540

chr6:
152686086-152686086

G

A

exonic

De novo

synonymous SNV

NM_033071
NM_182961

c.C10062T
c.C10041T

p.V3354V
p.V3347V

-

Fu2022 E

SYNE1

1-0265-003

chr6:
152615473-152615473

T

C

intronic

De novo

-

Yuen2017 G

SYNE1

Disecmas_232P

chr6:
152737749-152737749

G

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C5844G
c.C5823G

p.S1948R
p.S1941R

9.239

-

Fu2022 E

SYNE1

1-0756-004

chr6:
152894094-152894097

CCTT

C

intronic

De novo

-

Yuen2017 G

SYNE1

12499_p1

chr6:
152823811-152823811

T

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.A866G
c.A845G

p.Y289C
p.Y282C

19.57

-

Fu2022 E

SYNE1

AU0251-0203

chr6:
152763209-152763209

C

G

splicing

De novo

splicing

25.9

-

Fu2022 E

SYNE1

10C108715

chr6:
152771947-152771947

G

A

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C3229T
c.C3208T

p.P1077S
p.P1070S

14.12

-

Fu2022 E

SYNE1

11719-1

chr6:
152461171-152461171

C

G

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.G25228C
c.G25372C

p.D8410H
p.D8458H

13.01

-

Fu2022 E

SYNE1

PN400581

chr6:
152665326-152665326

C

T

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.G11902A
c.G12115A

p.V3968I
p.V4039I

25.1

1.0E-4

Leblond2019 E

SYNE1

PN400285

chr6:
152806014-152806014

C

T

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.G1162A
c.G1141A

p.D388N
p.D381N

32.0

0.0012

Leblond2019 E

SYNE1

12907.p1

chr6:
152776965-152776965

G

A

intronic

Mosaic

-

Dou2017 E

SYNE1

2-1369-003

chr6:
152771947-152771947

G

A

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C3229T
c.C3208T

p.P1077S
p.P1070S

14.12

-

Jiang2013 G
Yuen2016 G
Yuen2017 G

SYNE1

1-0022-003

chr6:
152444223-152444223

A

G

intronic

De novo

-

Yuen2016 G

SYNE1

Viggiano2022:22.4

chr6:
152774789-152774789

C

T

exonic

Paternal

nonsynonymous SNV

NM_033071
NM_182961

c.G2980A
c.G2959A

p.D994N
p.D987N

26.2

-

Viggiano2022 GT

SYNE1

14485.p1

chr6:
152647554-152647554

G

A

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C14957T
c.C15170T

p.A4986V
p.A5057V

12.16

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SYNE1

14490.p1

chr6:
152673266-152673266

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_033071
NM_182961

c.A11431G
c.A11476G

p.K3811E
p.K3826E

14.55

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

SYNE1

12499.p1

chr6:
152823811-152823811

T

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.A866G
c.A845G

p.Y289C
p.Y282C

19.57

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SYNE1

14396.p1

chr6:
152831363-152831363

C

T

exonic

De novo

synonymous SNV

NM_033071
NM_182961

c.G567A
c.G546A

p.K189K
p.K182K

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

SYNE1

13793.p1

chr6:
152782817-152782817

G

A

exonic

Mosaic

nonsynonymous SNV

NM_033071
NM_182961

c.C2330T
c.C2309T

p.A777V
p.A770V

18.43

-

Krupp2017 E

SYNE1

AU1848302

chr6:
152675946-152675946

G

C

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C10795G
c.C10774G

p.Q3599E
p.Q3592E

11.74

-

Yuen2017 G

SYNE1

Viggiano2022:22.3

chr6:
152774789-152774789

C

T

exonic

Paternal

nonsynonymous SNV

NM_033071
NM_182961

c.G2980A
c.G2959A

p.D994N
p.D987N

26.2

-

Viggiano2022 GT

SYNE1

AU2029303

chr6:
152462798-152462798

G

A

intronic

De novo

-

Yuen2017 G

SYNE1

PN400476

chr6:
152651911-152651911

C

T

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.G13696A
c.G13909A

p.D4566N
p.D4637N

19.37

9.0E-4

Leblond2019 E

SYNE1

AU3811305

chr6:
152818109-152818109

C

T

intronic

De novo

-

Yuen2017 G

SYNE1

60-2027

chr6:
152670735-152670735

G

A

intronic

De novo

-

Michaelson2012 G

SYNE1

NDAR_INVPV214WLY_wes1

chr6:
152640152-152640152

T

TA

splicing

De novo

splicing

-

8.436E-6

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

SYNE1

SP0003327

chr6:
152599079-152599079

G

C

intronic

De novo

-

Fu2022 E

SYNE1

08C77802

chr6:
152763403-152763403

T

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

SYNE1

PN400308

chr6:
152540140-152540140

G

A

exonic

Unknown

stopgain

NM_033071
NM_182961

c.C21829T
c.C22042T

p.Q7277X
p.Q7348X

47.0

-

Leblond2019 E

SYNE1

2-0149-004

chr6:
152806916-152806916

G

T

intronic

De novo

-

Yuen2017 G

SYNE1

1-0627-006

chr6:
152862296-152862296

T

C

intronic

De novo

-

Yuen2017 G

SYNE1

1-0627-006

chr6:
152604354-152604354

A

G

intronic

De novo

-

Yuen2017 G

SYNE1

1-0261-003

chr6:
153017576-153017576

G

A

intergenic

De novo

-

Yuen2017 G

SYNE1

5-0073-003

chr6:
153016280-153016280

T

G

intergenic

De novo

-

Yuen2017 G

SYNE1

1-0570-003

chr6:
152834219-152834219

C

A

intronic

De novo

-

Yuen2017 G

SYNE1

1-0652-004

chr6:
152921362-152921362

C

T

intronic

De novo

-

Yuen2017 G

SYNE1

AU046904

chr6:
152836590-152836590

T

C

intronic

De novo

-

Yuen2017 G

SYNE1

2-0198-003

chr6:
152803847-152803847

T

C

intronic

De novo

-

Yuen2017 G

SYNE1

5-0129-003

chr6:
152903302-152903302

G

A

intronic

De novo

-

Yuen2017 G

SYNE1

1-0756-005

chr6:
152894094-152894097

CCTT

C

intronic

De novo

-

Yuen2017 G

SYNE1

PN400443

chr6:
152665326-152665326

C

T

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.G11902A
c.G12115A

p.V3968I
p.V4039I

25.1

1.0E-4

Leblond2019 E

SYNE1

AU-1600

chr6:
152690641-152690641

G

T

exonic

Inherited

nonsynonymous SNV

NM_033071
NM_182961

c.C9637A
c.C9616A

p.L3213M
p.L3206M

16.84

1.648E-5

Yu2013 E

SYNE1

AU2029302

chr6:
152462798-152462798

G

A

intronic

De novo

-

Yuen2017 G

SYNE1

AU0636303

chr6:
152987855-152987855

A

C

intergenic

De novo

-

Yuen2017 G

SYNE1

14396_p1

chr6:
152831363-152831363

C

T

exonic

De novo

synonymous SNV

NM_033071
NM_182961

c.G567A
c.G546A

p.K189K
p.K182K

-

Fu2022 E

SYNE1

1-0985-003

chr6:
152816914-152816914

G

A

intronic

De novo

-

Yuen2017 G

SYNE1

Cukier2014:17122

chr6:
152779933-152779933

G

A

exonic

Unknown

nonsynonymous SNV

NM_033071
NM_182961

c.C2548T
c.C2527T

p.R850C
p.R843C

21.7

0.0251

Cukier2014 E

SYNE1

1-0022-004

chr6:
152444223-152444223

A

G

intronic

De novo

-

Yuen2017 G

SYNE1

233-10-113234

chr6:
152751604-152751604

G

T

intronic

De novo

-

Satterstrom2020 E

SYNE1

10C109044

chr6:
152793462-152793462

A

G

exonic

De novo

synonymous SNV

NM_033071
NM_182961

c.T1458C
c.T1437C

p.P486P
p.P479P

-

Fu2022 E
Satterstrom2020 E

SYNE1

AU3721302

chr6:
152924947-152924961

GTATATATATATATA

GTATATATATATATATA

intronic

De novo

-

Yuen2017 G

SYNE1

2-0244-003

chr6:
152873969-152873969

T

A

intronic

De novo

-

Yuen2017 G

SYNE1

5-0109-003

chr6:
152857758-152857758

C

T

intronic

De novo

-

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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