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Results for "KMT2E"

Variant Events: 29

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
KMT2E     33738chr7:
104749443-104749447
AAGACAexonicUnknownframeshift deletionNM_018682
NM_182931
c.3524_3527del
c.3524_3527del
p.K1175fs
p.K1175fs
--Wang2020 T
KMT2E     M8314chr7:
104752467-104752467
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C4264T
c.C4264T
p.R1422C
p.R1422C
23.31.648E-5Wang2020 T
Wang2020 T
KMT2E     2-1089-003chr7:
104699281-104699281
TCintronicDe novo--Yuen2017 G
KMT2E     AU2485305chr7:
104754591-104754591
GCdownstreamDe novo--Yuen2017 G
KMT2E     4413chr7:
104745964-104745964
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C2275T
c.C2275T
p.R759C
p.R759C
16.538.242E-6Wang2020 T
Wang2020 T
KMT2E     GX0509.p1chr7:
104742439-104742439
GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G1994A
c.G1994A
p.R665H
p.R665H
23.48.296E-6Wang2020 T
Wang2020 T
KMT2E     HN0231.p1chr7:
104748334-104748334
GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G3430A
c.G3430A
p.G1144R
p.G1144R
29.98.313E-6Wang2020 T
Wang2020 T
KMT2E     370630chr7:
104745965-104745965
GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G2276A
c.G2276A
p.R759H
p.R759H
22.9-Wang2020 T
Wang2020 T
KMT2E     PN400554chr7:
104748307-104748307
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C3403T
c.C3403T
p.R1135W
p.R1135W
22.98.264E-6Leblond2019 E
KMT2E     64484330chr7:
104730562-104730562
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C1465T
c.C1465T
p.R489W
p.R489W
16.144.153E-5Wang2020 T
Wang2020 T
KMT2E     09C95778chr7:
104731771-104731771
GAintronicDe novo15.74.675E-5DeRubeis2014 E
Kosmicki2017 E
KMT2E     1-0636-003chr7:
104718952-104718971
TTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTintronicDe novo--Yuen2017 G
KMT2E     12952.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_018682
NM_182931
NM_018682
NM_182931
c.3198delC
c.3198delC
c.3197delC
c.3197delC
p.S1066fs
p.S1066fs
p.S1066fs
p.S1066fs
--Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
KMT2E     M31983chr7:
104714100-104714100
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C532T
c.C532T
p.R178C
p.R178C
24.43.363E-5Wang2020 T
Wang2020 T
KMT2E     AU007503chr7:
104714477-104714485
CTTTTATTTCTTTintronicDe novo--Yuen2017 G
KMT2E     1-0299-003chr7:
104700046-104700046
GAintronicDe novo--Yuen2017 G
KMT2E     AU076303chr7:
104730644-104730644
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C1547T
c.C1547T
p.T516M
p.T516M
14.736.645E-5Wang2020 T
Wang2020 T
KMT2E     Cukier2014:37037chr7:
104747899-104747899
GTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G2995T
c.G2995T
p.G999C
p.G999C
24.20.0377Cukier2014 E
KMT2E     HEN0182.p1chr7:
104748173-104748173
CTexonicMaternalnonsynonymous SNVNM_018682
NM_182931
c.C3269T
c.C3269T
p.S1090L
p.S1090L
35.0-Guo2018 T
KMT2E     14299.p1chr7:
104702706-104702707
ACAexonicDe novostopgainNM_018682
NM_182931
c.168delC
c.168delC
p.Y56X
p.Y56X
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
KMT2E     SP0050656chr7:
104746105-104746105
GAexonicDe novononsynonymous SNVNM_018682
NM_182931
c.G2416A
c.G2416A
p.E806K
p.E806K
15.53-Feliciano2019 E
KMT2E     M19752chr7:
104749443-104749447
AAGACAexonicMaternal, Unknownframeshift deletionNM_018682
NM_182931
c.3524_3527del
c.3524_3527del
p.K1175fs
p.K1175fs
--Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
Wang2020 T
KMT2E     M32511chr7:
104748334-104748334
GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G3430A
c.G3430A
p.G1144R
p.G1144R
29.98.313E-6Wang2020 T
Wang2020 T
Wang2020 T
KMT2E     GX0484.p1chr7:
104745964-104745964
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C2275T
c.C2275T
p.R759C
p.R759C
16.538.242E-6Wang2020 T
Wang2020 T
KMT2E     109580-100chr7:
104752482-104752482
CTexonicInherited, UnknownstopgainNM_018682
NM_182931
c.C4279T
c.C4279T
p.Q1427X
p.Q1427X
57.0-Stessman2017 T
Wang2020 T
Wang2020 T
KMT2E     SP0050656chr7:
104746103-104746103
AGexonicDe novononsynonymous SNVNM_018682
NM_182931
c.A2414G
c.A2414G
p.K805R
p.K805R
16.08-Feliciano2019 E
KMT2E     A5G5Mchr7:
104750798-104750798
GCexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G3827C
c.G3827C
p.R1276P
p.R1276P
23.5-Wang2020 T
Wang2020 T
KMT2E     PN400530chr7:
104748307-104748307
CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.C3403T
c.C3403T
p.R1135W
p.R1135W
22.98.264E-6Leblond2019 E
KMT2E     84380468chr7:
104749443-104749447
AAGACAexonicUnknownframeshift deletionNM_018682
NM_182931
c.3524_3527del
c.3524_3527del
p.K1175fs
p.K1175fs
--Wang2020 T
Wang2020 T
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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