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Results for "KIAA1024"

Variant Events: 20

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
KIAA1024     2-0116-004chr15:
79937362-79937362
GCintergenicDe novo--Yuen2017 G
KIAA1024     2-1425-003chr15:
79765670-79765670
GGTATintergenicDe novo--Yuen2017 G
KIAA1024     3-0227-000chr15:
79750338-79750338
CTexonicDe novononsynonymous SNVNM_015206c.C1849Tp.R617C17.561.649E-5Tammimies2015 E
KIAA1024     1-0007-003chr15:
79762190-79762190
GAUTR3De novo--Yuen2017 G
KIAA1024     1-0627-007chr15:
79987151-79987154
CAAACAAintergenicDe novo--Yuen2017 G
KIAA1024     AU2485305chr15:
79843671-79843671
AGintergenicDe novo--Yuen2017 G
KIAA1024     13946.p1chr15:
79844762-79844762
ACintergenicDe novo--Turner2016 G
KIAA1024     AU3853302chr15:
79950039-79950039
GCintergenicDe novo--Yuen2017 G
KIAA1024     1-0485-003chr15:
80066101-80066101
GAintergenicDe novo--Yuen2017 G
KIAA1024     2-1180-003chr15:
79789188-79789188
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
KIAA1024     2-1359-004chr15:
79787012-79787012
ATintergenicDe novo--Yuen2017 G
KIAA1024     3-0446-000chr15:
80006607-80006607
TGintergenicDe novo--Yuen2017 G
KIAA1024     AU4476302chr15:
80024860-80024860
AGintergenicDe novo--Yuen2017 G
KIAA1024     2-0238-003chr15:
79977141-79977141
CAintergenicDe novo--Yuen2017 G
KIAA1024     AU3716302chr15:
80041668-80041668
TGintergenicDe novo--Yuen2017 G
KIAA1024     2-1480-003chr15:
79834260-79834260
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KIAA1024     AU072905chr15:
80041368-80041368
GAintergenicDe novo--Yuen2017 G
KIAA1024     2-0210-004chr15:
79972089-79972089
GAintergenicDe novo--Yuen2017 G
KIAA1024     7-0095-003chr15:
80054040-80054040
TAintergenicDe novo--Yuen2017 G
KIAA1024     AU076808chr15:
80047329-80047329
CGintergenicDe 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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