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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
G
E
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
G
E
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
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
NDST1
SP0361922
chr5:
149927867-149927867
C
T
exonic
nonsynonymous SNV
NM_001543
c.C2233T
p.R745C
23.9
1.654E-5
Zhou2022
G
E
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
splicing
20.9
-
Zhou2022
G
E
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
G
E
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
G
E
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
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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
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