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Results for "KIAA0319"

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
KIAA0319     AU4284301chr6:
24593119-24593119
GTintronicDe novo--Yuen2017 G
KIAA0319     Lim2017:6301chr6:
24564464-24564464
CTexonicDe novosynonymous SNVNM_001252328
NM_001168376
NM_001168375
NM_001168377
NM_014809
NM_001168374
c.G630A
c.G2262A
c.G2397A
c.G2397A
c.G2397A
c.G2370A
p.S210S
p.S754S
p.S799S
p.S799S
p.S799S
p.S790S
-1.65E-5Lim2017 E
KIAA0319     AU2333302chr6:
24593413-24593413
CTintronicDe novo--Yuen2017 G
KIAA0319     2-0305-003chr6:
24557576-24557576
AGintronicDe novo--Yuen2017 G
KIAA0319     1-0153-004chr6:
24565081-24565081
GAintronicDe novo--Yuen2017 G
KIAA0319     AU4093304chr6:
24544219-24544239
TGTAAAAGGCCAGATAGTAAATGTAAAdownstreamDe novo--Yuen2017 G
KIAA0319     12621.p1chr6:
24564464-24564464
CTexonicDe novosynonymous SNVNM_001252328
NM_001168376
NM_001168375
NM_001168377
NM_014809
NM_001168374
c.G630A
c.G2262A
c.G2397A
c.G2397A
c.G2397A
c.G2370A
p.S210S
p.S754S
p.S799S
p.S799S
p.S799S
p.S790S
-1.65E-5Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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