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Results for "KIAA1958"

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
KIAA1958     1-0701-003chr9:
115354355-115354355
GAintronicDe novo--Yuen2017 G
KIAA1958     2-0129-005chr9:
115369402-115369402
CTintronicDe novo--Yuen2017 G
KIAA1958     2-1444-003chr9:
115352549-115352549
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1958     AU075803chr9:
115371230-115371230
CTintronicDe novo--Yuen2017 G
KIAA1958     2-0304-003chr9:
115437877-115437877
AGintergenicDe novo--Yuen2017 G
KIAA1958     3-0469-000chr9:
115412860-115412860
TCintronicDe novo--Yuen2017 G
KIAA1958     SSC04323chr9:
115337394-115337394
AGexonicDe novononsynonymous SNVNM_001287036
NM_001287038
NM_133465
c.A1034G
c.A1034G
c.A1034G
p.H345R
p.H345R
p.H345R
8.419-Lim2017 E
KIAA1958     CC1090.202chr9:
115337061-115337061
CCAexonicDe novoframeshift insertionNM_001287036
NM_001287038
NM_133465
c.702dupA
c.702dupA
c.702dupA
p.A234fs
p.A234fs
p.A234fs
--Satterstrom2020 E
KIAA1958     12392.p1chr9:
115337394-115337394
AGexonicDe novononsynonymous SNVNM_001287036
NM_001287038
NM_133465
c.A1034G
c.A1034G
c.A1034G
p.H345R
p.H345R
p.H345R
8.419-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
KIAA1958     2-1186-003chr9:
115433394-115433394
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KIAA1958     5-0110-003chr9:
115404721-115404721
GAintronicDe 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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