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Results for "KIAA0100"

Variant Events: 16

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     SSC03134chr17:
26961787-26961787		GAexonicDe novononsynonymous SNVNM_014680c.C2818Tp.R940C15.065.0E-4Trost2022 G
KIAA0100     Wang2023:519chr17:
26961723-26961723		CGexonicDe novononsynonymous SNVNM_014680c.G2882Cp.R961P11.512.471E-5Wang2023 E
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
Zhou2022 GE
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
Zhou2022 GE
KIAA0100     SP0019454chr17:
26959290-26959290		TCintronicDe novo-1.693E-5Fu2022 E
KIAA0100     SP0056899chr17:
26942814-26942814		ACexonicDe novosynonymous SNVNM_014680c.T6393Gp.G2131G--Fu2022 E
KIAA0100     SP0068929chr17:
26946934-26946934		GAexonicDe novononsynonymous SNVNM_014680c.C5464Tp.R1822W17.998.24E-6Fu2022 E
Trost2022 G
Zhou2022 GE
KIAA0100     80001101001chr17:
26972111-26972111		CTUTR5De novo--Satterstrom2020 E
Trost2022 G
KIAA0100     1-0677-003chr17:
26958654-26958654		TCexonicDe novononsynonymous SNVNM_014680c.A4142Gp.Q1381R19.9-Trost2022 G
Yuen2017 G
Zhou2022 GE
KIAA0100     5920chr17:
26961045-26961045		GAexonicDe novostopgainNM_014680c.C3130Tp.R1044X42.0-Fu2022 E
Trost2022 G
KIAA0100     mAGRE2099chr17:
26969971-26969972		ATAexonicPaternalframeshift deletionNM_014680c.430delAp.M144fs-8.239E-6Cirnigliaro2023 G
KIAA0100     mAGRE2516chr17:
26960125-26960125		GAexonicMaternalstopgainNM_014680c.C3640Tp.Q1214X45.0-Cirnigliaro2023 G
KIAA0100     mAGRE4041chr17:
26945943-26945943		GAexonicMaternalstopgainNM_014680c.C5689Tp.R1897X47.0-Cirnigliaro2023 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

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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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