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Results for "NDST1"

Variant Events: 10

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     1-0352-005chr5:
149938884-149938884
ACintergenicDe novo--Yuen2017 G
NDST1     2-1272-003chr5:
149970338-149970338
GAintergenicDe novo--Yuen2016 G
NDST1     AU046904chr5:
149881292-149881292
CTintronicDe novo--Yuen2017 G
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--Yuen2017 G
NDST1     PN400415chr5:
149901150-149901150
CTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543
c.C334T
c.C334T
p.R112C
p.R112C
20.83.0E-4Leblond2019 E
NDST1     1-0352-003chr5:
149938884-149938884
ACintergenicDe novo--Yuen2016 G
NDST1     08C72662chr5:
149907622-149907622
GAexonicDe novononsynonymous SNVNM_001301063
NM_001543
c.G770A
c.G770A
p.G257D
p.G257D
9.911-Satterstrom2020 E
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 notesView
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