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Results for "ZKSCAN5"
Variant Events: 12
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
ZKSCAN5
09C99485
chr7:
99123456-99123456
A
G
exonic
De novo
nonsynonymous SNV
NM_014569
NM_145102
c.A793G
c.A793G
p.M265V
p.M265V
8.153
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Neale2012
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
ZKSCAN5
AU05304
chr7:
99128899-99128899
T
C
exonic
De novo
nonsynonymous SNV
NM_014569
NM_145102
c.T1547C
c.T1547C
p.I516T
p.I516T
1.397
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
ZKSCAN5
SP0099287
chr7:
99123521-99123521
C
T
exonic
De novo
synonymous SNV
NM_014569
NM_145102
c.C858T
c.C858T
p.T286T
p.T286T
-
8.238E-6
Fu2022
E
Trost2022
G
Zhou2022
G
E
ZKSCAN5
2-0088-003
chr7:
99114481-99114481
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ZKSCAN5
Wang2023:799
chr7:
99129141-99129141
C
T
exonic
De novo
nonsynonymous SNV
NM_014569
NM_145102
c.C1789T
c.C1789T
p.R597C
p.R597C
19.14
-
Wang2023
E
ZKSCAN5
mAGRE5087
chr7:
99102784-99102784
G
A
splicing
Paternal
splicing
-
-
Cirnigliaro2023
G
ZKSCAN5
mAGRE5086
chr7:
99102784-99102784
G
A
splicing
Paternal
splicing
-
-
Cirnigliaro2023
G
ZKSCAN5
1-0401-003
chr7:
99131569-99131569
G
GGCGACCTGC
downstream
De novo
-
-
Trost2022
G
Yuen2017
G
ZKSCAN5
AU2227301
chr7:
99120962-99120962
C
T
intronic
De novo
-
-
Trost2022
G
ZKSCAN5
AU2227301
chr7:
99122794-99122794
A
G
intronic
De novo
-
-
Trost2022
G
ZKSCAN5
7-0303-003
chr7:
99107806-99107806
G
A
intronic
De novo
-
-
Trost2022
G
ZKSCAN5
MSSNG00017-003
chr7:
99112541-99112541
A
G
intronic
De novo
-
-
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 notes
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