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Results for "NDST3"

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
NDST3     2-0022-005chr4:
118980761-118980761
CTintronicDe novo--Yuen2017 G
NDST3     1-0367-003chr4:
119155496-119155496
GAintronicDe novo--Yuen2017 G
NDST3     MT_160chr4:
119154209-119154209
TAexonicPaternalnonsynonymous SNVNM_004784c.T1862Ap.I621N24.3-Toma2013 E
NDST3     AU4164301chr4:
119161009-119161009
GTintronicDe novo--Yuen2017 G
NDST3     AU3885304chr4:
118990518-118990518
GTintronicDe novo--Yuen2017 G
NDST3     1-0161-003chr4:
119191091-119191091
GAintergenicDe novo--Yuen2017 G
NDST3     AU3951301chr4:
119151243-119151243
TCintronicDe novo--Yuen2017 G
NDST3     2-1303-003chr4:
119169759-119169759
CTintronicDe novo--Yuen2016 G
Yuen2017 G
NDST3     5-0046-003chr4:
119131338-119131338
GAintronicDe novo--Yuen2017 G
NDST3     11572.p1chr4:
119167215-119167215
GCintronicDe novo--Turner2016 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 notesView
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