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Results for "KMT2B"

Variant Events: 12

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
KMT2B     1245011chr19:
36221666-36221666
CTexonicDe novostopgainNM_014727c.C5335Tp.R1779X45.0-Satterstrom2020 E
KMT2B     11409.p1chr19:
36218664-36218664
CTexonicDe novosynonymous SNVNM_014727c.C4368Tp.F1456F-7.483E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KMT2B     1-0054-003chr19:
36218109-36218109
CTexonicDe novosynonymous SNVNM_014727c.C4056Tp.S1352S--Yuen2017 G
KMT2B     2-0238-003chr19:
36228816-36228816
CTexonicDe novononsynonymous SNVNM_014727c.C7715Tp.T2572M8.986-Yuen2015 G
Yuen2017 G
KMT2B     AU4376301chr19:
36214045-36214045
CTexonicDe novosynonymous SNVNM_014727c.C2871Tp.H957H-2.0E-4Yuen2017 G
KMT2B     12123.p1chr19:
36211143-36211143
TGexonicDe novosynonymous SNVNM_014727c.T894Gp.G298G-4.312E-5Krumm2015 E
Lim2017 E
KMT2B     21189-33353chr19:
36218786-36218786
GAexonicInheritednonsynonymous SNVNM_014727c.G4397Ap.S1466N13.64-Callaghan2019 G
KMT2B     14329.p1chr19:
36222846-36222846
TGexonicDe novononsynonymous SNVNM_014727c.T5475Gp.D1825E4.18-Krumm2015 E
Satterstrom2020 E
KMT2B     Cukier2014:17342chr19:
36216691-36216691
CTexonicUnknownnonsynonymous SNVNM_014727c.C3857Tp.T1286I16.794.13E-5Cukier2014 E
KMT2B     SP0004355chr19:
36214396-36214396
CTexonicDe novononsynonymous SNVNM_014727c.C3050Tp.A1017V10.3-Feliciano2019 E
KMT2B     SSC11980chr19:
36222846-36222846
TGexonicDe novononsynonymous SNVNM_014727c.T5475Gp.D1825E4.18-Lim2017 E
KMT2B     Lim2017:70228chr19:
36218664-36218664
CTexonicDe novosynonymous SNVNM_014727c.C4368Tp.F1456F-7.483E-5Lim2017 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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