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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     09C99485chr7:
99123456-99123456
AGexonicDe novononsynonymous SNVNM_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 GE
ZKSCAN5     AU05304chr7:
99128899-99128899
TCexonicDe novononsynonymous SNVNM_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 GE
ZKSCAN5     SP0099287chr7:
99123521-99123521
CTexonicDe novosynonymous SNVNM_014569
NM_145102
c.C858T
c.C858T
p.T286T
p.T286T
-8.238E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ZKSCAN5     AU2227301chr7:
99120962-99120962
CTintronicDe novo--Trost2022 G
ZKSCAN5     AU2227301chr7:
99122794-99122794
AGintronicDe novo--Trost2022 G
ZKSCAN5     2-0088-003chr7:
99114481-99114481
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZKSCAN5     7-0303-003chr7:
99107806-99107806
GAintronicDe novo--Trost2022 G
ZKSCAN5     MSSNG00017-003chr7:
99112541-99112541
AGintronicDe novo--Trost2022 G
ZKSCAN5     Wang2023:799chr7:
99129141-99129141
CTexonicDe novononsynonymous SNVNM_014569
NM_145102
c.C1789T
c.C1789T
p.R597C
p.R597C
19.14-Wang2023 E
ZKSCAN5     mAGRE5087chr7:
99102784-99102784
GAsplicingPaternalsplicing--Cirnigliaro2023 G
ZKSCAN5     mAGRE5086chr7:
99102784-99102784
GAsplicingPaternalsplicing--Cirnigliaro2023 G
ZKSCAN5     1-0401-003chr7:
99131569-99131569
GGGCGACCTGCdownstreamDe novo--Trost2022 G
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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