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Results for "KIAA1324"

Variant Events: 7

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
KIAA1324     iHART2390chr1:
109742679-109742679
AGsplicingPaternalsplicing18.48.239E-6Ruzzo2019 G
KIAA1324     12821.p1chr1:
109742576-109742576
GAexonicDe novononsynonymous SNVNM_001284353
NM_001267048
NM_001284352
NM_020775
c.G1588A
c.G2341A
c.G2296A
c.G2602A
p.V530I
p.V781I
p.V766I
p.V868I
14.132.471E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
KIAA1324     2-1731-003chr1:
109665683-109665683
CTintronicDe novo--Yuen2017 G
KIAA1324     1-0458-003chr1:
109754822-109754822
CCAintergenicDe novo--Yuen2017 G
KIAA1324     1-0485-003chr1:
109700740-109700740
CTintronicDe novo--Yuen2017 G
KIAA1324     AU3790301chr1:
109668279-109668279
TCintronicDe novo--Yuen2017 G
KIAA1324     2-0143-004chr1:
109663955-109663955
GGATGGTintronicDe 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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