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Results for "KDM2B"

Variant Events: 21

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
KDM2B     08C76787chr12:
122017917-122017917
CAintronicDe novo-1.701E-5Satterstrom2020 E
KDM2B     PN400194chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 E
KDM2B     5-0026-003chr12:
121881631-121881631
GAintronicDe novo--Yuen2017 G
KDM2B     08C74223chr12:
122017917-122017917
CAintronicDe novo-1.701E-5Satterstrom2020 E
KDM2B     PN400232chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 E
KDM2B     14008.p1chr12:
121881979-121881979
GTexonicDe novononsynonymous SNVNM_001005366
NM_032590
c.C2194A
c.C2287A
p.P732T
p.P763T
14.18-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
KDM2B     PN400503chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 E
KDM2B     SSC02909chr12:
122017956-122017956
AATexonicframeshift insertionNM_001005366c.1dupAp.M1fs-1.663E-5Antaki2022 GE
KDM2B     ASC_11432-1chr12:
121882342-121882342
GTintronicDe novo--Fu2022 E
KDM2B     14008_p1chr12:
121881979-121881979
GTexonicDe novononsynonymous SNVNM_001005366
NM_032590
c.C2194A
c.C2287A
p.P732T
p.P763T
14.18-Fu2022 E
KDM2B     SP0029586chr12:
121881901-121881901
CTexonicDe novononsynonymous SNVNM_001005366
NM_032590
c.G2272A
c.G2365A
p.G758S
p.G789S
0.1141.658E-5Feliciano2019 E
Fu2022 E
KDM2B     1-0190-003chr12:
121871353-121871353
GCintronicDe novo--Yuen2017 G
KDM2B     2-1112-003chr12:
121987714-121987714
CGintronicDe novo--Yuen2016 G
Yuen2017 G
KDM2B     1-0215-006chr12:
121927369-121927369
ATintronicDe novo--Yuen2017 G
KDM2B     PN400280chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 E
KDM2B     131-11-113849chr12:
121891188-121891188
CTintronicDe novo--Satterstrom2020 E
KDM2B     AU2458303chr12:
121986979-121986979
GTintronicDe novo--Yuen2017 G
KDM2B     PN400231chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 E
KDM2B     SP0056296chr12:
122017967-122017967
ACUTR5De novo--Fu2022 E
KDM2B     SP0059384chr12:
122017916-122017916
GAintronicDe novo-2.98E-5Fu2022 E
KDM2B     PN400301chr12:
122018732-122018734
CTGCexonicUnknownframeshift deletionNM_032590c.83_84delp.T28fs-0.0032Leblond2019 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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