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Results for "ZDHHC8"

Variant Events: 8

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
ZDHHC8     7-0288-004chr22:
20130538-20130538
GAexonicDe novononsynonymous SNVNM_001185024
NM_013373
c.G1385A
c.G1385A
p.R462H
p.R462H
13.664.396E-5Trost2022 G
Zhou2022 GE
ZDHHC8     SP0053835chr22:
20130191-20130191
GAintronicDe novo--Fu2022 E
ZDHHC8     SP0031814chr22:
20128424-20128424
CTexonicDe novosynonymous SNVNM_001185024
NM_013373
c.C783T
c.C783T
p.L261L
p.L261L
--Fu2022 E
Trost2022 G
Zhou2022 GE
ZDHHC8     NP075chr22:
20130777-20130777
GAexonicDe novononsynonymous SNVNM_001185024
NM_013373
c.G1624A
c.G1624A
p.D542N
p.D542N
29.5-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZDHHC8     JASD_Fam0234chr22:
20130777-20130777
GAexonicDe novononsynonymous SNVNM_001185024
NM_013373
c.G1624A
c.G1624A
p.D542N
p.D542N
29.5-Takata2018 E
ZDHHC8     74-0265chr22:
20122552-20122552
GAintronicInherited--Michaelson2012 G
ZDHHC8     SP0048957chr22:
20134120-20134120
GAUTR3De novo--Fu2022 E
Trost2022 G
ZDHHC8     SP0022603chr22:
20133278-20133278
GAUTR3De novo--Fu2022 E
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 notesView
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