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Results for "KDM1B"

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
KDM1B     DEASD_0304_001chr6:
18171678-18171678
CTexonicDe novostopgainNM_153042c.C502Tp.R168X39.0-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
KDM1B     2-0129-005chr6:
18184531-18184533
AGTAintronicDe novo--Yuen2017 G
KDM1B     AU1894303chr6:
18185329-18185329
AGintronicDe novo--Yuen2017 G
KDM1B     AU050910chr6:
18171599-18171599
GAexonicDe novosynonymous SNVNM_153042c.G423Ap.Q141Q-8.239E-6Yuen2017 G
KDM1B     SP0001207chr6:
18218108-18218108
GAexonicDe novononsynonymous SNVNM_153042c.G1681Ap.A561T23.14.122E-5Feliciano2019 E
KDM1B     12228.p1chr6:
18163084-18163084
CAexonicMosaicstopgainNM_153042c.C234Ap.Y78X39.08.259E-6Dou2017 E
KDM1B     AU3764302chr6:
18210564-18210567
CTTTCTTTTintronicDe novo--Yuen2017 G
KDM1B     7-0095-003chr6:
18182466-18182466
ACintronicDe 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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