Variant Results

or

Results for "SNTG1"

Variant Events: 79

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

SNTG1

7-0068-003

chr8:
51667075-51667075

T

C

intronic

De novo

-

Yuen2017 G

SNTG1

11471.p1

chr8:
51306875-51306875

G

A

intronic

De novo

-

1.68E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SNTG1

2-0244-003

chr8:
50841670-50841670

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

AU3906301

chr8:
50838635-50838635

T

C

intronic

De novo

-

Yuen2017 G

SNTG1

AU4242302

chr8:
51871104-51871104

T

C

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0593-003

chr8:
51714882-51714882

A

G

intergenic

De novo

-

Yuen2017 G

SNTG1

1-1000-003

chr8:
51598510-51598525

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

SNTG1

1-0469-005

chr8:
50986016-50986016

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

2-0305-003

chr8:
52153963-52153963

A

ATAAAG

intergenic

De novo

-

Yuen2017 G

SNTG1

NDAR_INVZW891AN2_wes1

chr8:
51314822-51314822

T

C

exonic

De novo

nonsynonymous SNV

NM_001287814
NM_018967
NM_001287813

c.T80C
c.T80C
c.T80C

p.V27A
p.V27A
p.V27A

18.05

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SNTG1

1-0541-003

chr8:
51612097-51612097

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

AU1404301

chr8:
52170419-52170419

A

T

intergenic

De novo

-

Yuen2017 G

SNTG1

09C89530

chr8:
51705253-51705253

T

A

exonic

De novo

nonsynonymous SNV

NM_001287814
NM_018967
NM_001287813

c.T1307A
c.T1418A
c.T1418A

p.F436Y
p.F473Y
p.F473Y

15.35

8.264E-6

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

SNTG1

1-0661-003

chr8:
52203219-52203219

G

T

intergenic

De novo

-

Yuen2017 G

SNTG1

2-1275-003

chr8:
51462939-51462939

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

AU070703

chr8:
51827280-51827280

G

C

intergenic

De novo

-

Yuen2017 G

SNTG1

AU3787302

chr8:
50937187-50937187

T

C

intronic

De novo

-

Yuen2017 G

SNTG1

1-0196-005

chr8:
52071781-52071781

C

A

intergenic

De novo

-

Yuen2017 G

SNTG1

2-0057-003

chr8:
51281285-51281285

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

2-1521-003

chr8:
51764716-51764729

GTATATATATATAT

GTATATATATAT

intergenic

De novo

-

Yuen2017 G

SNTG1

AU072004

chr8:
52158175-52158175

A

C

intergenic

De novo

-

Yuen2017 G

SNTG1

AU3874301

chr8:
51555802-51555802

T

G

intronic

De novo

-

Yuen2017 G

SNTG1

11835.p1

chr8:
51580738-51580741

TTTG

T

intronic

De novo

-

Wilfert2021 G

SNTG1

1-0835-003

chr8:
51323880-51323880

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

2-0202-003

chr8:
52149997-52149997

T

C

intergenic

De novo

-

Yuen2017 G

SNTG1

AU079204

chr8:
51571449-51571449

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

AU4188302

chr8:
51919033-51919033

A

T

intergenic

De novo

-

Yuen2017 G

SNTG1

AU3634301

chr8:
51846866-51846866

T

C

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0336-004

chr8:
51353274-51353274

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

1-0336-004

chr8:
50974435-50974435

G

T

intronic

De novo

-

Yuen2017 G

SNTG1

2-0129-004

chr8:
51025632-51025632

G

T

intronic

De novo

-

Yuen2017 G

SNTG1

1-0169-003

chr8:
51658686-51658686

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

AU3907302

chr8:
51297139-51297139

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

1-0289-004

chr8:
51898553-51898553

A

AGATC

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0417-003

chr8:
51042095-51042095

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

AU4079301

chr8:
51642554-51642554

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

09C90753A

chr8:
51617300-51617300

A

T

exonic

De novo

synonymous SNV

NM_001287814
NM_018967
NM_001287813

c.A1179T
c.A1179T
c.A1179T

p.V393V
p.V393V
p.V393V

-

6.0E-4

Satterstrom2020 E

SNTG1

2-1594-003

chr8:
51117209-51117209

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

1-0508-003

chr8:
51127471-51127471

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

5-0117-003

chr8:
51027806-51027806

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

1-0495-003

chr8:
51837659-51837659

A

G

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0936-003

chr8:
50962500-50962500

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

2-1196-003

chr8:
51211386-51211386

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

AU3811305

chr8:
51436280-51436280

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

1-0745-003

chr8:
51321801-51321801

T

A

intronic

De novo

-

Yuen2017 G

SNTG1

1-0531-003

chr8:
52086098-52086098

G

A

intergenic

De novo

-

Yuen2016 G

SNTG1

AU4233301

chr8:
51856764-51856764

T

G

intergenic

De novo

-

Yuen2017 G

SNTG1

2-1398-003

chr8:
51827276-51827278

CAG

C

intergenic

De novo

-

Yuen2017 G

SNTG1

3A550

chr8:
51503450-51503450

C

T

exonic

De novo

synonymous SNV

NM_001287814
NM_018967
NM_001287813

c.C822T
c.C822T
c.C822T

p.I274I
p.I274I
p.I274I

-

Satterstrom2020 E

SNTG1

1-0433-004

chr8:
51046124-51046124

A

T

intronic

De novo

-

Yuen2017 G

SNTG1

1-0372-003

chr8:
51713092-51713092

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

2-1183-003

chr8:
51931779-51931779

T

C

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0483-003

chr8:
51066348-51066348

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

2-0503-004

chr8:
50851171-50851171

C

CT

intronic

De novo

-

Yuen2017 G

SNTG1

1-0186-005

chr8:
52171993-52171993

C

A

intergenic

De novo

-

Yuen2017 G

SNTG1

2-1696-003

chr8:
51453296-51453296

C

T

intronic

De novo

-

Yuen2017 G

SNTG1

2-1132-003

chr8:
50893754-50893755

AC

A

intronic

De novo

-

Yuen2017 G

SNTG1

AU4468301

chr8:
51054377-51054377

G

C

intronic

De novo

-

Yuen2017 G

SNTG1

1-0674-004

chr8:
51529288-51529288

T

A

intronic

De novo

-

Yuen2017 G

SNTG1

1-0408-003

chr8:
51815225-51815225

G

A

intergenic

De novo

-

Yuen2017 G

SNTG1

13649.p1

chr8:
51128955-51128955

A

G

intronic

De novo

-

Turner2016 G

SNTG1

2-0299-005

chr8:
51579079-51579079

C

G

intronic

De novo

-

Yuen2017 G

SNTG1

2-1567-003

chr8:
51652732-51652732

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

AU3124302

chr8:
51900863-51900863

A

T

intergenic

De novo

-

Yuen2017 G

SNTG1

2-1279-003

chr8:
51811199-51811199

C

T

intergenic

De novo

-

Yuen2017 G

SNTG1

AU4378301

chr8:
52015161-52015161

T

G

intergenic

De novo

-

Yuen2017 G

SNTG1

AU3839303

chr8:
50953724-50953724

G

T

intronic

De novo

-

Yuen2017 G

SNTG1

1-0384-003

chr8:
52094249-52094249

G

A

intergenic

De novo

-

Yuen2017 G

SNTG1

1-0466-003

chr8:
50957516-50957516

C

A

intronic

De novo

-

Yuen2017 G

SNTG1

AU4145303

chr8:
51229418-51229418

G

A

intronic

De novo

-

Yuen2017 G

SNTG1

AU039304

chr8:
51897743-51897743

T

A

intergenic

De novo

-

Yuen2017 G

SNTG1

2-1363-003

chr8:
51474935-51474935

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

2-1529-003

chr8:
51480161-51480161

A

G

intronic

De novo

-

Yuen2017 G

SNTG1

2-1375-003

chr8:
51952487-51952487

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

2-0135-004

chr8:
51304839-51304839

T

C

intronic

De novo

-

Yuen2017 G

SNTG1

1-0509-003

chr8:
51283499-51283499

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

2-1421-003

chr8:
51209562-51209562

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SNTG1

1-1004-003

chr8:
51051262-51051262

T

C

intronic

De novo

-

Yuen2017 G

SNTG1

AU3888302

chr8:
51509039-51509039

G

A

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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