Variant Results

or

Results for "NDST4"

Variant Events: 85

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

NDST4

AU028305

chr4:
116392604-116392604

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-1264-003

chr4:
115872947-115872947

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NDST4

2-0135-003

chr4:
116384932-116384932

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-0242-005

chr4:
116217224-116217224

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

2-1359-003

chr4:
117088132-117088132

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

AU1860301

chr4:
116307303-116307303

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-0135-003

chr4:
116374161-116374161

T

G

intergenic

De novo

-

Yuen2017 G

NDST4

7-0044-003

chr4:
116984383-116984383

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0092-003

chr4:
116653470-116653470

T

TAAGCAA

intergenic

De novo

-

Yuen2017 G

NDST4

1-0898-003

chr4:
116699196-116699196

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU4392302

chr4:
116078911-116078911

T

A

intergenic

De novo

-

Yuen2017 G

NDST4

AU079204

chr4:
116500023-116500023

A

T

intergenic

De novo

-

Yuen2017 G

NDST4

7-0023-003

chr4:
116013948-116013948

A

T

intronic

De novo

-

Yuen2017 G

NDST4

2-1429-004

chr4:
116217224-116217224

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

2-0208-004

chr4:
117053400-117053405

AAGTCT

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0454-003

chr4:
116913099-116913102

CTAT

CT

intergenic

De novo

-

Yuen2017 G

NDST4

1-0563-004

chr4:
116217224-116217224

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

2-1509-003

chr4:
116911069-116911083

TACACACACACACAC

TACACACACACAC

intergenic

De novo

-

Yuen2017 G

NDST4

3-0140-000

chr4:
117055585-117055585

A

C

intergenic

De novo

-

Yuen2017 G

NDST4

AU026604

chr4:
116140806-116140806

G

T

intergenic

De novo

-

Yuen2017 G

NDST4

2-0304-004

chr4:
116155013-116155013

G

T

intergenic

De novo

-

Yuen2017 G

NDST4

AU031003

chr4:
116692102-116692102

C

A

intergenic

De novo

-

Yuen2017 G

NDST4

AU031003

chr4:
117199318-117199318

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

1-0345-004

chr4:
116908648-116908648

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

AU024104

chr4:
116167004-116167004

C

A

intergenic

De novo

-

Yuen2017 G

NDST4

2-1721-003

chr4:
115991476-115991476

G

A

intronic

De novo

-

Yuen2017 G

NDST4

1-0923-003

chr4:
116323858-116323858

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU002903

chr4:
115820940-115820940

T

C

intronic

De novo

-

Yuen2017 G

NDST4

11209.p1

chr4:
115760701-115760701

G

A

exonic

De novo

stopgain

NM_022569

c.C2119T

p.Q707X

46.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

NDST4

2-1315-003

chr4:
115777357-115777357

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NDST4

AU4410302

chr4:
116657657-116657657

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

11006.p1

chr4:
115997959-115997959

A

G

exonic

De novo

synonymous SNV

NM_022569

c.T234C

p.P78P

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

NDST4

1-0656-003

chr4:
116136488-116136488

C

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-0503-004

chr4:
116962240-116962240

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

AU3874303

chr4:
116681835-116681835

A

T

intergenic

De novo

-

Yuen2017 G

NDST4

2-0208-003

chr4:
117053400-117053405

AAGTCT

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0065-005

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

2-1429-003

chr4:
116217224-116217224

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

1-0043-003

chr4:
116479631-116479631

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

2-0019-004

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

5-0105-003

chr4:
116319202-116319202

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0777-003

chr4:
116653321-116653321

C

G

intergenic

De novo

-

Yuen2017 G

NDST4

1-0777-003

chr4:
116132918-116132918

A

C

intergenic

De novo

-

Yuen2017 G

NDST4

2-0006-004

chr4:
115941665-115941666

AC

A

intronic

De novo

-

Yuen2017 G

NDST4

1-0112-003

chr4:
116565120-116565126

ATACTTT

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0488-003

chr4:
116025863-116025863

G

T

intronic

De novo

-

Yuen2017 G

NDST4

1-0560-003

chr4:
116317387-116317391

GCCCC

GCCC

intergenic

De novo

-

Yuen2017 G

NDST4

1-0279-004

chr4:
117003524-117003524

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

AU3779301

chr4:
117112185-117112185

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

1-0652-004

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

2-0298-003

chr4:
116334912-116334912

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

2-1140-003

chr4:
116096910-116096910

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU1742302

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

NDST4

2-0198-003

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

2-1269-003

chr4:
115765393-115765393

T

G

intronic

De novo

-

Yuen2017 G

NDST4

AU046703

chr4:
115756958-115756958

T

C

intronic

De novo

-

Yuen2017 G

NDST4

AU3858302

chr4:
116252676-116252676

C

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU072505

chr4:
116446119-116446119

T

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU3057302

chr4:
117212221-117212221

A

G

intergenic

De novo

-

Yuen2017 G

NDST4

AU3761301

chr4:
116463775-116463775

C

A

intergenic

De novo

-

Yuen2017 G

NDST4

2-1562-003

chr4:
116142846-116142846

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

1-0595-004

chr4:
116388670-116388670

G

T

intergenic

De novo

-

Yuen2017 G

NDST4

SSC03263

chr4:
115760701-115760701

G

A

exonic

De novo

stopgain

NM_022569

c.C2119T

p.Q707X

46.0

-

Lim2017 E

NDST4

2-1252-003

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

1-0209-003

chr4:
116850219-116850219

C

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0901-003

chr4:
116628741-116628752

AATGAGTTAAGG

A

intergenic

De novo

-

Yuen2017 G

NDST4

Lim2017:5316

chr4:
115997959-115997959

A

G

exonic

De novo

synonymous SNV

NM_022569

c.T234C

p.P78P

-

Lim2017 E

NDST4

1-1004-003

chr4:
116960087-116960087

A

C

intergenic

De novo

-

Yuen2017 G

NDST4

1-0141-003

chr4:
117181214-117181214

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

1-0079-008

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

2-0013-003

chr4:
116401769-116401769

C

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-1619-004

chr4:
116351532-116351532

G

C

intergenic

De novo

-

Yuen2017 G

NDST4

1-0092-004

chr4:
116653470-116653470

T

TAAGCAA

intergenic

De novo

-

Yuen2017 G

NDST4

AU4159301

chr4:
116831576-116831576

C

T

intergenic

De novo

-

Yuen2017 G

NDST4

2-1205-003

chr4:
115964042-115964042

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NDST4

AU3997302

chr4:
116018705-116018705

C

G

intronic

De novo

-

Yuen2017 G

NDST4

2-1255-003

chr4:
116361484-116361484

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NDST4

5-0040-003

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

3-0661-000

chr4:
117164701-117164701

T

G

intergenic

De novo

-

Yuen2017 G

NDST4

2-1148-004

chr4:
116217322-116217322

A

ATTTTT

intergenic

De novo

-

Yuen2017 G

NDST4

1-0906-003

chr4:
116626100-116626100

T

C

intergenic

De novo

-

Yuen2017 G

NDST4

AU3787302

chr4:
116792137-116792137

G

T

intergenic

De novo

-

Yuen2017 G

NDST4

2-1398-004

chr4:
116763786-116763786

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

2-1148-004

chr4:
116449895-116449895

G

A

intergenic

De novo

-

Yuen2017 G

NDST4

7-0183-003

chr4:
116949443-116949443

G

T

intergenic

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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