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Results for "KDM6B"

Variant Events: 10

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
KDM6B     12683.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_001080424
NM_001080424
c.575delG
c.576delG
p.R192fs
p.R192fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
KDM6B     13446.p1chr17:
7755659-7755659
GCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
KDM6B     SP0019310chr17:
7756573-7756573
CTexonicDe novononsynonymous SNVNM_001080424c.C4783Tp.R1595C14.86-Feliciano2019 E
KDM6B     Mahjani2021:84chr17:
7751740-7751740
CTexonicstopgainNM_001080424c.C2134Tp.Q712X39.0-Mahjani2021 E
KDM6B     TAS_F3039Ychr17:
7756583-7756584
ACAexonicDe novoframeshift deletionNM_001080424c.4794delCp.Y1598fs--Satterstrom2020 E
KDM6B     DEASD_0146_001chr17:
7755277-7755277
GAexonicDe novononsynonymous SNVNM_001080424c.G4174Ap.E1392K20.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KDM6B     DEASD_0129_001chr17:
7755289-7755289
TAexonicDe novononsynonymous SNVNM_001080424c.T4186Ap.F1396I20.1-Satterstrom2020 E
KDM6B     11329.p1chr17:
7749188-7749188
AGsplicingDe novosplicing13.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
KDM6B     13675.p1chr17:
7755287-7755290
ACTTAexonicDe novononframeshift deletionNM_001080424c.4185_4187delp.1395_1396del--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KDM6B     12683.p1chr17:
7749188-7749188
AGsplicingDe novosplicing13.0-Willsey2013 E
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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