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Results for "KMT2D"

Variant Events: 9

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
KMT2D     60-4031chr12:
49433291-49433291
CGexonicInheritednonsynonymous SNVNM_003482c.G8156Cp.S2719T9.824.454E-5Patowary2019 E
KMT2D     14023.p1chr12:
49433800-49433800
CGexonicMosaicnonsynonymous SNVNM_003482c.G7753Cp.G2585R8.389-Dou2017 E
Krupp2017 E
KMT2D     11776.p1chr12:
49415648-49415648
TCexonicMosaic, De novononsynonymous SNVNM_003482c.A16529Gp.Y5510C8.661-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
KMT2D     470-09-112005chr12:
49418485-49418485
CTexonicDe novononsynonymous SNVNM_003482c.G15928Ap.G5310R16.37-Satterstrom2020 E
KMT2D     14492.p1chr12:
49440030-49440030
GTintronicMosaic Mat.--Dou2017 E
KMT2D     091-08-109377chr12:
49448530-49448530
CTexonicDe novononsynonymous SNVNM_003482c.G181Ap.G61S15.39-Satterstrom2020 E
KMT2D     1-0469-005chr12:
49440421-49440421
GAexonicDe novosynonymous SNVNM_003482c.C4389Tp.T1463T-9.17E-5Yuen2015 G
Yuen2017 G
KMT2D     2-0309-005chr12:
49444268-49444268
GTexonicDe novononsynonymous SNVNM_003482c.C3103Ap.Q1035K0.128-Yuen2015 G
Yuen2017 G
KMT2D     SSC02815chr12:
49415648-49415648
TCexonicDe novononsynonymous SNVNM_003482c.A16529Gp.Y5510C8.661-Lim2017 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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