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Results for "KIAA1109"

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
KIAA1109     AU3302302chr4:
123138447-123138447
CAintronicDe novo--Yuen2017 G
KIAA1109     AU3846302chr4:
123235004-123235009
CCTACTCCTintronicDe novo--Yuen2017 G
KIAA1109     AU4029301chr4:
123099953-123099953
CAintronicDe novo--Yuen2017 G
KIAA1109     NDAR_INVLA373KYF_wes1chr4:
123165223-123165223
AGintronicDe novo-0.0015Kosmicki2017 E
Satterstrom2020 E
KIAA1109     7-0194-003chr4:
123142087-123142087
CAintronicDe novo--Yuen2017 G
KIAA1109     DEASD_0042_001chr4:
123140507-123140507
GAexonicDe novononsynonymous SNVNM_015312c.G2260Ap.G754R25.2-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KIAA1109     AU3712301chr4:
123182390-123182390
CTintronicDe novo--Yuen2017 G
KIAA1109     2-0300-004chr4:
123108504-123108504
GAintronicDe novo--Yuen2017 G
KIAA1109     EGAN00001100925chr4:
123237705-123237705
TCintronicDe novo11.9-Satterstrom2020 E
KIAA1109     2-1152-003chr4:
123109547-123109547
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1109     PN400301chr4:
123252539-123252539
CTexonicUnknownnonsynonymous SNVNM_015312c.C11308Tp.R3770C33.00.0012Leblond2019 E
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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