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Results for "KDM3A"

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
KDM3A     PN400286chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     1-0567-003chr2:
86728238-86728240
CTTCintergenicDe novo--Yuen2017 G
KDM3A     08C79295chr2:
86678313-86678313
ATexonicDe novostopgainNM_001146688
NM_018433
c.A430T
c.A430T
p.K144X
p.K144X
27.2-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KDM3A     PN400326chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400283chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400527chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400350chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400246chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400474chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400498chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     AU017703chr2:
86720950-86720950
CAintergenicDe novo--Yuen2017 G
KDM3A     1-0559-005chr2:
86670765-86670765
GAintronicDe novo--Yuen2017 G
KDM3A     PN400371chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     PN400424chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 E
KDM3A     1-0627-007chr2:
86677450-86677450
CTintronicDe novo--Yuen2017 G
KDM3A     PN400504chr2:
86716518-86716518
GAexonicUnknownnonsynonymous SNVNM_001146688
NM_018433
c.G3391A
c.G3391A
p.V1131I
p.V1131I
32.00.0031Leblond2019 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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