or
or
Exact

Results for "Chan2019"

Variant Events: 18

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
KMT2A     11145.p1chr11:
118344386-118344387		TGTexonicDe novoframeshift deletionNM_001197104
NM_005933		c.2513delG
c.2513delG		p.W838fs
p.W838fs		--Chan2019 GET
KMT2A     Chan2019:3chr11:
118371709-118371710		AGAexonicDe novoframeshift deletionNM_001197104
NM_005933		c.6167delG
c.6158delG		p.R2056fs
p.R2053fs		--Chan2019 GET
KMT2A     Chan2019:1chr11:
118376930-118376931		AGAexonicDe novoframeshift deletionNM_001197104
NM_005933		c.10324delG
c.10315delG		p.A3442fs
p.A3439fs		--Chan2019 GET
KMT2A     13742.p1chr11:
118365082-118365082		CGexonicInheritednonsynonymous SNVNM_001197104
NM_005933		c.C5258G
c.C5249G		p.A1753G
p.A1750G		21.4-Chan2019 GET
KMT2A     14093.p1chr11:
118362546-118362546		GAexonicInheritednonsynonymous SNVNM_001197104
NM_005933		c.G4907A
c.G4898A		p.R1636Q
p.R1633Q		33.01.647E-5Chan2019 GET
KMT2A     Jones2012:2chr11:
118374873-118374874		TTTexonicDe novostopgainNM_001197104
NM_005933		c.8267delT
c.8258delT		p.L2756X
p.L2753X		--Chan2019 GET
KMT2A     Jones2012:1chr11:
118375412-118375416		TGTCTTexonicDe novoframeshift deletionNM_001197104
NM_005933		c.8806_8809del
c.8797_8800del		p.V2936fs
p.V2933fs		--Chan2019 GET
KMT2A     Chan2019:5chr11:
118375150-118375150		TCexonicDe novononsynonymous SNVNM_001197104
NM_005933		c.T8543C
c.T8534C		p.L2848P
p.L2845P		13.42-Chan2019 GET
KMT2A     Chan2019:4chr11:
118374301-118374303		CTGCexonicDe novoframeshift deletionNM_001197104
NM_005933		c.7695_7696del
c.7686_7687del		p.S2565fs
p.S2562fs		--Chan2019 GET
KMT2A     13515.p1chr11:
118337993-118337993		GAintronicDe novo--Chan2019 GET
KMT2A     14535.p1chr11:
118378325-118378325		GCsplicingInheritedsplicing20.91.672E-5Chan2019 GET
KMT2A     Chan2019:6chr11:
118374702-118374702		CTexonicDe novostopgainNM_001197104
NM_005933		c.C8095T
c.C8086T		p.R2699X
p.R2696X		47.0-Chan2019 GET
KMT2A     Baer2018:30chr11:
118370550-118370550		GAexonicDe novononsynonymous SNVNM_001197104
NM_005933		c.G6080A
c.G6071A		p.G2027E
p.G2024E		18.15-Chan2019 GET
KMT2A     DDD4K.02892chr11:
118373178-118373178		CTexonicDe novostopgainNM_001197104
NM_005933		c.C6571T
c.C6562T		p.R2191X
p.R2188X		46.0-Chan2019 GET
KMT2A     Li2018:5chr11:
118348850-118348850		GAexonicDe novononsynonymous SNVNM_001197104
NM_005933		c.G3503A
c.G3503A		p.G1168D
p.G1168D		24.4-Chan2019 GET
KMT2A     Baer2018:31chr11:
118369155-118369155		AGexonicUnknownnonsynonymous SNVNM_001197104
NM_005933		c.A5873G
c.A5864G		p.H1958R
p.H1955R		18.48-Chan2019 GET
KMT2A     1339JS0028chr11:
118344818-118344818		TAexonicDe novononsynonymous SNVNM_001197104
NM_005933		c.T2944A
c.T2944A		p.S982T
p.S982T		6.688-Chan2019 GET
KMT2A     DEASD_0323_001chr11:
118360578-118360579		ACAexonicDe novoframeshift deletionNM_001197104
NM_005933		c.4552delC
c.4552delC		p.P1518fs
p.P1518fs		--Chan2019 GET
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us