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Results for "KDM2A"

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
KDM2A     SP0061474chr11:
67020271-67020271
CTexonicDe novononsynonymous SNVNM_001256405
NM_012308
c.C1558T
c.C2875T
p.L520F
p.L959F
28.7-Antaki2022 GE
Fu2022 E
KDM2A     AU043804chr11:
66922347-66922347
TCintronicDe novo--Yuen2017 G
KDM2A     1-0336-003chr11:
67001081-67001081
CTintronicDe novo--Yuen2017 G
KDM2A     1-0467-005chr11:
67001072-67001072
GGACintronicDe novo--Yuen2017 G
KDM2A     1-0520-003chr11:
66955759-66955759
CGintronicDe novo--Yuen2017 G
KDM2A     200675277_1082034292chr11:
67007740-67007740
CCTexonicDe novoframeshift insertionNM_001256405c.63dupTp.S21fs--Fu2022 E
KDM2A     SSC02035chr11:
66999298-66999298
GAexonicDe novononsynonymous SNVNM_012308c.G1346Ap.R449K5.746-Fu2022 E
Lim2017 E
KDM2A     1-0591-003chr11:
66974788-66974788
AGintronicDe novo--Yuen2017 G
KDM2A     2-1485-004chr11:
67001042-67001042
GCintronicDe novo--Yuen2017 G
KDM2A     1-0112-004chr11:
67001042-67001042
GCintronicDe novo--Yuen2017 G
KDM2A     AU3903302chr11:
66966112-66966112
CTintronicDe novo--Yuen2017 G
KDM2A     1-0464-003chr11:
66927975-66927975
GCintronicDe novo--Yuen2016 G
Yuen2017 G
KDM2A     200675277@1082034292chr11:
67007740-67007740
CCTexonicDe novoframeshift insertionNM_001256405c.63dupTp.S21fs--Satterstrom2020 E
KDM2A     1-0153-005chr11:
67001042-67001042
GCintronicDe novo--Yuen2017 G
KDM2A     11584.p1chr11:
66999298-66999298
GAexonicDe novononsynonymous SNVNM_012308c.G1346Ap.R449K5.746-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
KDM2A     Chen2017:3chr11:
67007740-67007740
CCTexonicDe novoframeshift insertionNM_001256405c.63dupTp.S21fs--Chen2017 E
KDM2A     1-0253-004chr11:
67001042-67001042
GCintronicDe novo--Yuen2017 G
KDM2A     SP0040988chr11:
67010491-67010491
GAexonicDe novosynonymous SNVNM_001256405
NM_012308
c.G174A
c.G1491A
p.E58E
p.E497E
--Fu2022 E
KDM2A     SP0097493chr11:
67012903-67012903
TGexonicDe novononsynonymous SNVNM_001256405
NM_012308
c.T490G
c.T1807G
p.S164A
p.S603A
17.67-Fu2022 E
KDM2A     A2chr11:
66922167-66922167
CTintronicDe novo--Wu2018 G
KDM2A     1-0675-003chr11:
66927212-66927212
ATintronicDe novo--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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