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Results for "KIAA1468"

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
KIAA1468     2-1184-003chr18:
59966125-59966125
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1468     1-0181-004chr18:
59951191-59951191
TCintronicDe novo--Yuen2017 G
KIAA1468     7-0188-003chr18:
59978473-59978473
AGintergenicDe novo--Yuen2017 G
KIAA1468     2-1389-003chr18:
59919870-59919870
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1468     AU024606chr18:
59984911-59984913
AGGAGintergenicDe novo--Yuen2017 G
KIAA1468     Cukier2014:7663chr18:
59854886-59854886
GAexonicUnknownnonsynonymous SNVNM_020854c.G148Ap.G50S24.30.0069Cukier2014 E
KIAA1468     21165-33301chr18:
59899583-59899583
AGexonicInheritednonsynonymous SNVNM_020854c.A1543Gp.S515G24.4-Callaghan2019 G
KIAA1468     AU2109302chr18:
59976300-59976300
GAintergenicDe 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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