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Results for "CHST4"

Variant Events: 4

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
CHST4     AU050603chr16:
71580097-71580097
GAintergenicDe novo--Yuen2017 G
CHST4     MT_76chr16:
71571290-71571290
ACexonicPaternalnonsynonymous SNVNM_001166395
NM_005769
c.A710C
c.A710C
p.K237T
p.K237T
11.562.478E-5Toma2013 E
CHST4     iHART1385chr16:
71570592-71570593
TATexonicMaternalframeshift deletionNM_001166395
NM_005769
c.13delA
c.13delA
p.K5fs
p.K5fs
-9.066E-6Ruzzo2019 G
CHST4     iHART1388chr16:
71570592-71570593
TATexonicMaternalframeshift deletionNM_001166395
NM_005769
c.13delA
c.13delA
p.K5fs
p.K5fs
-9.066E-6Ruzzo2019 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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