or
or
Exact

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     3-0878-000chr5:
149901302-149901302
CTexonicDe novosynonymous SNVNM_001301063
NM_001543
c.C486T
c.C486T
p.Y162Y
p.Y162Y
-1.0E-4Trost2022 G
Zhou2022 GE
NDST1     Hu2022:4chr5:
149929268-149929268
GTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543
c.G2174T
c.G2345T
p.R725L
p.R782L
27.61.676E-5Hu2022 T
NDST1     Hu2022:4chr5:
149907553-149907553
CTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543
c.C701T
c.C701T
p.T234I
p.T234I
26.7-Hu2022 T
NDST1     14450.p1chr5:
149907584-149907584
CTexonicsynonymous SNVNM_001301063
NM_001543
c.C732T
c.C732T
p.R244R
p.R244R
--Zhou2022 GE
NDST1     2-1632-003chr5:
149877338-149877338
GAupstreamDe novo--Yuen2017 G
NDST1     AU3874301chr5:
149942750-149942750
CGintergenicDe novo--Yuen2017 G
NDST1     12362.p1chr5:
149912558-149912558
TCexonicMosaicnonsynonymous SNVNM_001301063
NM_001543
c.T1060C
c.T1060C
p.F354L
p.F354L
32.0-Krupp2017 E
NDST1     7-0100-003chr5:
149933079-149933079
CCGCTGUTR3De novo--Trost2022 G
Yuen2017 G
NDST1     1-0352-003chr5:
149938884-149938884
ACintergenicDe novo--Yuen2016 G
NDST1     SP0080477chr5:
149914456-149914456
ATexonicDe novononsynonymous SNVNM_001301063
NM_001543
c.A1124T
c.A1124T
p.D375V
p.D375V
22.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
NDST1     SP0361922chr5:
149927867-149927867
CTexonicnonsynonymous SNVNM_001543c.C2233Tp.R745C23.91.654E-5Zhou2022 GE
NDST1     1-0352-005chr5:
149938884-149938884
ACintergenicDe novo--Yuen2017 G
NDST1     2-1272-003chr5:
149970338-149970338
GAintergenicDe novo--Yuen2016 G
NDST1     SP0214855chr5:
149915448-149915448
GAsplicingsplicing20.9-Zhou2022 GE
NDST1     MSSNG00361-004chr5:
149890363-149890363
CTintronicDe novo--Trost2022 G
NDST1     AU046904chr5:
149881292-149881292
CTintronicDe novo--Trost2022 G
Yuen2017 G
NDST1     SP0353461chr5:
149900969-149900989
CCCCGAGCCTGACTGCGGGGACexonicframeshift deletionNM_001301063
NM_001543
c.154_173del
c.154_173del
p.P52fs
p.P52fs
--Zhou2022 GE
NDST1     PN400415chr5:
149901150-149901150
CTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543
c.C334T
c.C334T
p.R112C
p.R112C
20.83.0E-4Leblond2019 E
NDST1     SP0153830chr5:
149907671-149907671
CTexonicDe novosynonymous SNVNM_001301063
NM_001543
c.C819T
c.C819T
p.H273H
p.H273H
-3.309E-5Trost2022 G
NDST1     08C72662chr5:
149907622-149907622
GAexonicDe novononsynonymous SNVNM_001301063
NM_001543
c.G770A
c.G770A
p.G257D
p.G257D
9.911-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NDST1     1025chr5:
149931437-149931437
CTintronicDe novo--Trost2022 G
NDST1     2-0197-004chr5:
149892694-149892696
GCTAGAintronicDe novo--Trost2022 G
NDST1     SP0184825chr5:
149900826-149900826
CTexonicDe novosynonymous SNVNM_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 notesView
More