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Results for "KIAA0232"

Variant Events: 11

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
KIAA0232     12653.p1chr4:
6843914-6843914
CTexonicDe novostopgainNM_001100590
NM_014743
c.C352T
c.C352T
p.R118X
p.R118X
42.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
KIAA0232     2-0063-005chr4:
6858450-6858450
CTintronicDe novo--Yuen2017 G
KIAA0232     7-0080-003chr4:
6838670-6838670
TCintronicDe novo--Yuen2017 G
KIAA0232     2-0006-003chr4:
6829305-6829305
GAintronicDe novo--Yuen2017 G
KIAA0232     AU3874302chr4:
6845591-6845591
AGintronicDe novo--Yuen2017 G
KIAA0232     SSC06116chr4:
6843914-6843914
CTexonicDe novostopgainNM_001100590
NM_014743
c.C352T
c.C352T
p.R118X
p.R118X
42.0-Lim2017 E
KIAA0232     AU050704chr4:
6893421-6893421
CGintergenicDe novo--Yuen2017 G
KIAA0232     AU005214chr4:
6793813-6793813
GTintronicDe novo--Yuen2017 G
KIAA0232     2K784chr4:
6865852-6865853
CACexonicDe novoframeshift deletionNM_001100590
NM_014743
c.3744delA
c.3744delA
p.A1248fs
p.A1248fs
--Satterstrom2020 E
KIAA0232     2-1437-003chr4:
6784097-6784097
CTupstreamDe novo--Yuen2017 G
KIAA0232     13171.p1chr4:
6902296-6902296
GCintergenicDe novo--Turner2016 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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