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Results for "KIAA1614"

Variant Events: 9

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
KIAA1614     2-1357-003chr1:
180897812-180897812
AATGintronicDe novo--Yuen2017 G
KIAA1614     Cukier2014:7713chr1:
180905263-180905263
CTexonicUnknownnonsynonymous SNVNM_020950c.C2218Tp.R740W10.90.0392Cukier2014 E
KIAA1614     A4chr1:
180900147-180900147
GAintronicDe novo--Wu2018 G
KIAA1614     Cukier2014:37232chr1:
180905263-180905263
CTexonicUnknownnonsynonymous SNVNM_020950c.C2218Tp.R740W10.90.0392Cukier2014 E
KIAA1614     1-0336-004chr1:
180928022-180928022
CTintergenicDe novo--Yuen2017 G
KIAA1614     MR_825chr1:
180886166-180886166
CTexonicDe novosynonymous SNVNM_020950c.C927Tp.N309N-5.027E-5Satterstrom2020 E
KIAA1614     iHART1374chr1:
180913654-180913654
TCsplicingPaternalsplicing9.7858.346E-6Ruzzo2019 G
KIAA1614     12793.p1chr1:
180882707-180882707
GAintronicDe novo--Turner2016 G
KIAA1614     iHART1375chr1:
180913654-180913654
TCsplicingPaternalsplicing9.7858.346E-6Ruzzo2019 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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