Variant Results

or

Results for "NDST1"

Variant Events: 23

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

NDST1

3-0878-000

chr5:
149901302-149901302

C

T

exonic

De novo

synonymous SNV

NM_001301063
NM_001543

c.C486T
c.C486T

p.Y162Y
p.Y162Y

-

1.0E-4

Trost2022 G
Zhou2022 GE

NDST1

Hu2022:4

chr5:
149929268-149929268

G

T

exonic

Unknown

nonsynonymous SNV

NM_001301063
NM_001543

c.G2174T
c.G2345T

p.R725L
p.R782L

27.6

1.676E-5

Hu2022 T

NDST1

Hu2022:4

chr5:
149907553-149907553

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301063
NM_001543

c.C701T
c.C701T

p.T234I
p.T234I

26.7

-

Hu2022 T

NDST1

14450.p1

chr5:
149907584-149907584

C

T

exonic

synonymous SNV

NM_001301063
NM_001543

c.C732T
c.C732T

p.R244R
p.R244R

-

Zhou2022 GE

NDST1

2-1632-003

chr5:
149877338-149877338

G

A

upstream

De novo

-

Yuen2017 G

NDST1

AU3874301

chr5:
149942750-149942750

C

G

intergenic

De novo

-

Yuen2017 G

NDST1

12362.p1

chr5:
149912558-149912558

T

C

exonic

Mosaic

nonsynonymous SNV

NM_001301063
NM_001543

c.T1060C
c.T1060C

p.F354L
p.F354L

32.0

-

Krupp2017 E

NDST1

7-0100-003

chr5:
149933079-149933079

C

CGCTG

UTR3

De novo

-

Trost2022 G
Yuen2017 G

NDST1

1-0352-003

chr5:
149938884-149938884

A

C

intergenic

De novo

-

Yuen2016 G

NDST1

SP0080477

chr5:
149914456-149914456

A

T

exonic

De novo

nonsynonymous SNV

NM_001301063
NM_001543

c.A1124T
c.A1124T

p.D375V
p.D375V

22.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

NDST1

SP0361922

chr5:
149927867-149927867

C

T

exonic

nonsynonymous SNV

NM_001543

c.C2233T

p.R745C

23.9

1.654E-5

Zhou2022 GE

NDST1

1-0352-005

chr5:
149938884-149938884

A

C

intergenic

De novo

-

Yuen2017 G

NDST1

2-1272-003

chr5:
149970338-149970338

G

A

intergenic

De novo

-

Yuen2016 G

NDST1

SP0214855

chr5:
149915448-149915448

G

A

splicing

20.9

-

Zhou2022 GE

NDST1

MSSNG00361-004

chr5:
149890363-149890363

C

T

intronic

De novo

-

Trost2022 G

NDST1

AU046904

chr5:
149881292-149881292

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NDST1

SP0353461

chr5:
149900969-149900989

CCCCGAGCCTGACTGCGGGGA

C

exonic

frameshift deletion

NM_001301063
NM_001543

c.154_173del
c.154_173del

p.P52fs
p.P52fs

-

Zhou2022 GE

NDST1

PN400415

chr5:
149901150-149901150

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301063
NM_001543

c.C334T
c.C334T

p.R112C
p.R112C

20.8

3.0E-4

Leblond2019 E

NDST1

SP0153830

chr5:
149907671-149907671

C

T

exonic

De novo

synonymous SNV

NM_001301063
NM_001543

c.C819T
c.C819T

p.H273H
p.H273H

-

3.309E-5

Trost2022 G

NDST1

08C72662

chr5:
149907622-149907622

G

A

exonic

De novo

nonsynonymous SNV

NM_001301063
NM_001543

c.G770A
c.G770A

p.G257D
p.G257D

9.911

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NDST1

1025

chr5:
149931437-149931437

C

T

intronic

De novo

-

Trost2022 G

NDST1

2-0197-004

chr5:
149892694-149892696

GCT

AGA

intronic

De novo

-

Trost2022 G

NDST1

SP0184825

chr5:
149900826-149900826

C

T

exonic

De novo

synonymous SNV

NM_001301063
NM_001543

c.C10T
c.C10T

p.L4L
p.L4L

-

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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