Variant Results

or

Results for "SND1"

Variant Events: 54

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

SND1

3-0191-000

chr7:
127609405-127609405

A

G

intronic

De novo

-

Trost2022 G

SND1

2-1093-009

chr7:
127653749-127653749

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

AU2463301

chr7:
127647377-127647377

C

T

intronic

De novo

-

Trost2022 G

SND1

AU2165301

chr7:
127531279-127531280

GT

G

intronic

De novo

-

Trost2022 G

SND1

MSSNG00022-003

chr7:
127598281-127598281

C

T

intronic

De novo

-

Trost2022 G

SND1

MSSNG00250-003

chr7:
127490991-127490991

T

C

intronic

De novo

-

Trost2022 G

SND1

5-5004-003

chr7:
127510804-127510804

A

G

intronic

De novo

-

Trost2022 G

SND1

MSSNG00081-003

chr7:
127447459-127447459

A

T

intronic

De novo

-

Trost2022 G

SND1

AU4467302

chr7:
127587034-127587039

CATATA

CATA

intronic

De novo

-

Yuen2017 G

SND1

REACH000319

chr7:
127474846-127474846

A

G

intronic

De novo

-

Trost2022 G

SND1

2-0197-004

chr7:
127752354-127752354

T

C

intergenic

De novo

-

Yuen2017 G

SND1

1-0708-003

chr7:
127615865-127615865

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

3-0058-000

chr7:
127689123-127689123

G

C

intronic

De novo

-

Trost2022 G

SND1

5-0009-003

chr7:
127693008-127693008

A

G

intronic

De novo

-

Trost2022 G

SND1

SP0113644

chr7:
127341306-127341306

T

G

exonic

De novo

nonsynonymous SNV

NM_014390

c.T518G

p.I173S

16.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SND1

AU056803

chr7:
127753396-127753396

A

G

intergenic

De novo

-

Yuen2017 G

SND1

AU072905

chr7:
127688760-127688760

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

1-0597-003

chr7:
127346755-127346755

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

3-0428-000

chr7:
127587692-127587692

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SND1

1-0352-005

chr7:
127629523-127629523

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

1-0898-003

chr7:
127653771-127653771

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

3-0111-000

chr7:
127295215-127295215

G

A

intronic

De novo

-

Yuen2016 G

SND1

11078.p1

chr7:
127631105-127631105

G

A

exonic

De novo

nonsynonymous SNV

NM_014390

c.G1775A

p.R592Q

35.0

2.806E-5

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SND1

2-1327-004

chr7:
127575024-127575024

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

2-1626-003

chr7:
127577799-127577799

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

AU3760302

chr7:
127346503-127346503

T

G

intronic

De novo

-

Yuen2017 G

SND1

2-1361-003

chr7:
127631885-127631885

G

A

intronic

De novo

-

Yuen2017 G

SND1

2-1374-003

chr7:
127418408-127418408

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

7-0254-003

chr7:
127501656-127501656

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

2-1352-003

chr7:
127445795-127445795

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SND1

AU4233301

chr7:
127541446-127541446

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

SSC00010

chr7:
127631105-127631105

G

A

exonic

De novo

nonsynonymous SNV

NM_014390

c.G1775A

p.R592Q

35.0

2.806E-5

Fu2022 E
Lim2017 E
Trost2022 G

SND1

2-0225-004

chr7:
127598798-127598798

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

3-0437-000

chr7:
127463264-127463264

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G

SND1

2-1436-003

chr7:
127636935-127636935

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

2-1567-003

chr7:
127695508-127695508

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

1-0403-003

chr7:
127673563-127673563

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

AU017704

chr7:
127442495-127442495

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

13649.p1

chr7:
127757868-127757868

G

A

intergenic

De novo

-

Turner2016 G

SND1

14496.p1

chr7:
127607725-127607725

A

C

intronic

De novo

-

Turner2016 G

SND1

1-0175-004

chr7:
127645492-127645492

G

A

intronic

De novo

-

Yuen2017 G

SND1

AU3765302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SND1

7-0080-003

chr7:
127328937-127328937

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SND1

1-0972-003

chr7:
127826272-127826272

T

G

intergenic

De novo

-

Yuen2017 G

SND1

1-0352-003

chr7:
127629523-127629523

C

T

intronic

De novo

-

Yuen2016 G

SND1

3-0029-000

chr7:
127421336-127421336

T

A

intronic

De novo

-

Trost2022 G

SND1

2-1120-003

chr7:
127841373-127841373

A

G

intergenic

De novo

-

Yuen2017 G

SND1

7-0327-003

chr7:
127445448-127445448

C

G

intronic

De novo

-

Trost2022 G

SND1

1-0853-003

chr7:
127395424-127395424

C

T

intronic

De novo

-

Trost2022 G

SND1

P6Q4Z_01

chr7:
127402766-127402766

T

G

intronic

De novo

-

Trost2022 G

SND1

2-1192-003

chr7:
127337568-127337569

CC

AT

intronic

De novo

-

Trost2022 G

SND1

SP0185848

chr7:
127358758-127358758

G

C

intronic

De novo

-

Trost2022 G

SND1

7-0450-003

chr7:
127305796-127305796

C

G

intronic

De novo

-

Trost2022 G

SND1

7-0295-003

chr7:
127313884-127313884

A

G

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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