or
or
Exact

Results for "ZDHHC14"

Variant Events: 35

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
ZDHHC14     5-0131-003chr6:
158195293-158195293
GAintergenicDe novo--Yuen2017 G
ZDHHC14     AU2137304chr6:
158192946-158192946
GCintergenicDe novo--Yuen2017 G
ZDHHC14     2-1154-003chr6:
157926516-157926516
GTintronicDe novo--Yuen2017 G
ZDHHC14     AU2410301chr6:
158091843-158091843
GAintronicDe novo--Yuen2017 G
ZDHHC14     NDAR_INVNE346GDX_wes1chr6:
158014030-158014030
CTexonicDe novosynonymous SNVNM_024630
NM_153746
c.C417T
c.C417T
p.N139N
p.N139N
-2.507E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ZDHHC14     2-1480-003chr6:
157818546-157818546
CGintronicDe novo--Yuen2016 G
Yuen2017 G
ZDHHC14     A8chr6:
157967207-157967207
CTintronicDe novo--Wu2018 G
ZDHHC14     2-0300-003chr6:
157873829-157873829
GTintronicDe novo--Yuen2017 G
ZDHHC14     133344chr6:
158014131-158014131
TCexonicnonsynonymous SNVNM_024630
NM_153746
c.T518C
c.T518C
p.F173S
p.F173S
25.3-Woodbury-Smith2022 E
ZDHHC14     2-1277-003chr6:
157991420-157991420
AGintronicDe novo--Yuen2017 G
ZDHHC14     AU4410302chr6:
158028425-158028445
AAAACAAACAAACAAACAAACAAAACAAACAAACAAACintronicDe novo--Yuen2017 G
ZDHHC14     AU4376301chr6:
158062703-158062705
CGGCGintronicDe novo--Yuen2017 G
ZDHHC14     1-0358-003chr6:
157931139-157931139
TGintronicDe novo--Yuen2017 G
ZDHHC14     1-0973-003chr6:
158174565-158174565
GAintergenicDe novo--Yuen2017 G
ZDHHC14     7-0077-003chr6:
157904997-157904997
ATintronicDe novo--Yuen2017 G
ZDHHC14     1-0206-004chr6:
158068273-158068278
ACTTTCAintronicDe novo-1.682E-5Yuen2017 G
ZDHHC14     2-0286-003chr6:
157820213-157820213
GAintronicDe novo--Yuen2017 G
ZDHHC14     7-0055-003chr6:
158188211-158188211
GAintergenicDe novo--Yuen2017 G
ZDHHC14     2-1386-003chr6:
158016968-158016968
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ZDHHC14     AU1987302chr6:
158144691-158144691
GAintergenicDe novo--Yuen2017 G
ZDHHC14     1-0885-003chr6:
158032323-158032323
CTintronicDe novo--Yuen2017 G
ZDHHC14     1-0261-004chr6:
157888675-157888675
GAintronicDe novo--Yuen2017 G
ZDHHC14     AU002405chr6:
158125021-158125021
GTintergenicDe novo--Yuen2017 G
ZDHHC14     1-0498-003chr6:
158110489-158110489
GAintergenicDe novo--Yuen2017 G
ZDHHC14     2-1215-003chr6:
157927296-157927296
CTintronicDe novo--Yuen2017 G
ZDHHC14     3-0270-000chr6:
158094104-158094104
TCexonicDe novononsynonymous SNVNM_024630
NM_153746
c.T1417C
c.T1372C
p.S473P
p.S458P
18.32-Tammimies2015 E
ZDHHC14     5-0015-003chr6:
158072356-158072356
CAintronicDe novo--Yuen2017 G
ZDHHC14     2-1182-003chr6:
158111852-158111852
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZDHHC14     7-0100-003chr6:
158195293-158195293
GAintergenicDe novo--Yuen2017 G
ZDHHC14     2-1358-003chr6:
157968201-157968201
CTintronicDe novo--Yuen2017 G
ZDHHC14     2-1258-003chr6:
158066682-158066682
GCintronicDe novo--Yuen2017 G
ZDHHC14     AU050604chr6:
157831231-157831231
GAintronicDe novo--Yuen2017 G
ZDHHC14     AU1933302chr6:
157803455-157803455
ATintronicDe novo--Yuen2017 G
ZDHHC14     AU057404chr6:
157855860-157855860
GAintronicDe novo--Yuen2017 G
ZDHHC14     2-1299-003chr6:
158041808-158041816
CTCAGGGCACintronicDe novo--Yuen2017 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