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Results for "ZKSCAN2"

Variant Events: 26

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
ZKSCAN2     AU4027306chr16:
25345656-25345656
GAintergenicDe novo--Yuen2017 G
ZKSCAN2     AU4235302chr16:
25459145-25459145
AGintergenicDe novo--Yuen2017 G
ZKSCAN2     SJD_49chr16:
25266562-25266562
TCexonicMaternalnonsynonymous SNVNM_001012981c.A551Gp.N184S9.433-Toma2013 E
ZKSCAN2     2-1327-004chr16:
25516284-25516288
CTTAACintergenicDe novo--Yuen2017 G
ZKSCAN2     3-0482-000chr16:
25556077-25556077
TCintergenicDe novo--Yuen2017 G
ZKSCAN2     5-0054-003chr16:
25404985-25404985
AGintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0508-003chr16:
25383140-25383140
CTintergenicDe novo--Yuen2017 G
ZKSCAN2     7-0248-003chr16:
25533872-25533872
GTintergenicDe novo--Yuen2017 G
ZKSCAN2     AU3302302chr16:
25623562-25623563
CACintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0871-003chr16:
25578257-25578257
CTintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0906-003chr16:
25433386-25433386
ACintergenicDe novo--Yuen2017 G
ZKSCAN2     2-0028-003chr16:
25644145-25644145
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZKSCAN2     AU4264302chr16:
25438689-25438689
GAintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0526-003chr16:
25618689-25618689
GGTTGAGCAintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0755-003chr16:
25478661-25478661
CTintergenicDe novo--Yuen2017 G
ZKSCAN2     5-0045-003chr16:
25321847-25321847
AGintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0514-003chr16:
25506779-25506779
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZKSCAN2     AU0780301chr16:
25502730-25502730
CGintergenicDe novo--Yuen2017 G
ZKSCAN2     AU074503chr16:
25383824-25383824
CTintergenicDe novo--Yuen2017 G
ZKSCAN2     AU1795302chr16:
25391383-25391383
GCintergenicDe novo--Yuen2017 G
ZKSCAN2     5-0088-003chr16:
25253749-25253751
TACTACACintronicDe novo--Yuen2017 G
ZKSCAN2     2-1066-004chr16:
25670904-25670911
ATTAACCCAintergenicDe novo--Yuen2017 G
ZKSCAN2     2-1173-003chr16:
25488117-25488117
GCintergenicDe novo--Yuen2017 G
ZKSCAN2     1-0006-004chr16:
25388910-25388910
AGintergenicDe novo--Yuen2017 G
ZKSCAN2     AU043804chr16:
25370859-25370859
AGintergenicDe novo--Yuen2017 G
ZKSCAN2     AU3874301chr16:
25574151-25574151
CTintergenicDe novo--Yuen2017 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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