or
or
Exact

Results for "KIAA0100"

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
KIAA0100     80001101001chr17:
26972111-26972111
CTUTR5De novo--Satterstrom2020 E
KIAA0100     1-0677-003chr17:
26958654-26958654
TCexonicDe novononsynonymous SNVNM_014680c.A4142Gp.Q1381R19.9-Yuen2017 G
KIAA0100     13346.p1chr17:
26961045-26961045
GAexonicDe novostopgainNM_014680c.C3130Tp.R1044X42.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
KIAA0100     11766.p1chr17:
26961787-26961787
GAexonicDe novononsynonymous SNVNM_014680c.C2818Tp.R940C15.065.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
KIAA0100     Codina-Sola2015:ASD_11chr17:
26965004-26965004
AGexonicMaternalnonsynonymous SNVNM_014680c.T1621Cp.C541R18.25-Codina-Sola2015 E
KIAA0100     iHART2099chr17:
26969971-26969972
ATAexonicPaternalframeshift deletionNM_014680c.430delAp.M144fs-8.239E-6Ruzzo2019 G
KIAA0100     iHART2516chr17:
26960125-26960125
GAexonicMaternalstopgainNM_014680c.C3640Tp.Q1214X45.0-Ruzzo2019 G
Source Variant Information

, -

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
More