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Results for "KDM1A"

Variant Events: 8

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
KDM1A     SSC11980chr1:
23409718-23409718
AGexonicDe novononsynonymous SNVNM_015013
NM_001009999
c.A2420G
c.A2492G
p.Y807C
p.Y831C
21.3-Antaki2022 GE
Trost2022 G
KDM1A     5-0055-003chr1:
23389827-23389833
TAAGAGATintronicDe novo--Trost2022 G
Yuen2017 G
KDM1A     SP0064002chr1:
23383992-23383992
CTexonicDe novostopgainNM_015013
NM_001009999
c.C946T
c.C1006T
p.R316X
p.R336X
37.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
KDM1A     SP0081936chr1:
23382420-23382420
TGintronicDe novo--Trost2022 G
Zhou2022 GE
KDM1A     7-0230-003chr1:
23378485-23378485
CTintronicDe novo--Trost2022 G
KDM1A     1-1039-003chr1:
23349126-23349126
CGintronicDe novo--Trost2022 G
KDM1A     14329.p1chr1:
23409718-23409718
AGexonicDe novononsynonymous SNVNM_015013
NM_001009999
c.A2420G
c.A2492G
p.Y807C
p.Y831C
21.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
KDM1A     1-0148-005chr1:
23345792-23345792
ACupstreamDe novo--Trost2022 G
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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