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Results for "KMT2E"

Variant Events: 43

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     2-1089-003chr7:
104699281-104699281		TCintronicDe novo--Trost2022 G
Yuen2017 G
KMT2E     AU2485305chr7:
104754591-104754591		GCdownstreamDe novo--Trost2022 G
Yuen2017 G
KMT2E     PN400554chr7:
104748307-104748307		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C3403T
c.C3403T		p.R1135W
p.R1135W		22.98.264E-6Leblond2019 E
KMT2E     09C95778chr7:
104731771-104731771		GAintronicDe novo15.74.675E-5DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE
KMT2E     1-0636-003chr7:
104718952-104718971		TTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTintronicDe novo--Yuen2017 G
KMT2E     SP0046497chr7:
104746103-104746103		ATexonicDe novononsynonymous SNVNM_018682
NM_182931		c.A2414T
c.A2414T		p.K805I
p.K805I		13.59-Trost2022 G
KMT2E     SP0158013chr7:
104704026-104704027		AGAexonicDe novoframeshift deletionNM_018682
NM_182931		c.416delG
c.416delG		p.S139fs
p.S139fs		--Trost2022 G
KMT2E     MSSNG00438-003chr7:
104716401-104716401		GTintronicDe novo--Trost2022 G
KMT2E     AU3716302chr7:
104691635-104691635		CTintronicDe novo--Trost2022 G
KMT2E     AU3716302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
KMT2E     12952.p1 Complex Event; expand row to view variants  Unknown, 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
Zhou2022 GE
KMT2E     Leuven_370630chr7:
104745965-104745965		GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G2276A
c.G2276A		p.R759H
p.R759H		22.9-Wang2020 T
KMT2E     AU007503 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KMT2E     1-0299-003chr7:
104700046-104700046		GAintronicDe novo--Yuen2017 G
KMT2E     14299_p1chr7:
104702706-104702707		ACAexonicDe novostopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Fu2022 E
KMT2E     Cukier2014:37037chr7:
104747899-104747899		GTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G2995T
c.G2995T		p.G999C
p.G999C		24.20.0377Cukier2014 E
KMT2E     SP0012788chr7:
104753234-104753234		AACexonicDe novoframeshift insertionNM_018682
NM_182931		c.5032dupC
c.5032dupC		p.L1677fs
p.L1677fs		--Fu2022 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		ACAexonicUnknown, De novostopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
KMT2E     SP0050656chr7:
104746105-104746105		GAexonicDe novononsynonymous SNVNM_018682
NM_182931		c.G2416A
c.G2416A		p.E806K
p.E806K		15.53-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
KMT2E     SanDiego_A5G5Mchr7:
104750798-104750798		GCexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G3827C
c.G3827C		p.R1276P
p.R1276P		23.5-Wang2020 T
KMT2E     ACGC_M19752chr7:
104749443-104749447		AAGACAexonicMaternalframeshift deletionNM_018682
NM_182931		c.3524_3527del
c.3524_3527del		p.K1175fs
p.K1175fs		--Wang2020 T
KMT2E     M19752chr7:
104749443-104749447		AAGACAexonicMaternalframeshift deletionNM_018682
NM_182931		c.3524_3527del
c.3524_3527del		p.K1175fs
p.K1175fs		--Guo2018 T
Wang2016 T
KMT2E     Leuven2_84380468chr7:
104749443-104749447		AAGACAexonicUnknownframeshift deletionNM_018682
NM_182931		c.3524_3527del
c.3524_3527del		p.K1175fs
p.K1175fs		--Wang2020 T
KMT2E     SSC10876chr7:
104702706-104702707		ACAexonicstopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Antaki2022 GE
KMT2E     SSC07141chr7:
104748100-104748101		TCTexonicDe novoframeshift deletionNM_018682
NM_182931		c.3197delC
c.3197delC		p.S1066fs
p.S1066fs		--Antaki2022 GE
Trost2022 G
KMT2E     AGRE_AU076303chr7:
104730644-104730644		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C1547T
c.C1547T		p.T516M
p.T516M		14.736.645E-5Wang2020 T
KMT2E     ACGC_M31983chr7:
104714100-104714100		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C532T
c.C532T		p.R178C
p.R178C		24.43.363E-5Wang2020 T
KMT2E     ACGC_GX0484.p1chr7:
104745964-104745964		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C2275T
c.C2275T		p.R759C
p.R759C		16.538.242E-6Wang2020 T
KMT2E     ACGC_4413chr7:
104745964-104745964		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C2275T
c.C2275T		p.R759C
p.R759C		16.538.242E-6Wang2020 T
KMT2E     Gecz2_33738chr7:
104749443-104749447		AAGACAexonicUnknownframeshift deletionNM_018682
NM_182931		c.3524_3527del
c.3524_3527del		p.K1175fs
p.K1175fs		--Wang2020 T
KMT2E     APP_109580-100chr7:
104752482-104752482		CTexonicUnknownstopgainNM_018682
NM_182931		c.C4279T
c.C4279T		p.Q1427X
p.Q1427X		57.0-Wang2020 T
KMT2E     Gecz4_47164chr7:
104681466-104681469		TCAGTAAAexonicUnknownnonframeshift substitutionNM_018682
NM_182931		c.68_70AAA
c.68_70AAA		N/A
N/A		--Wang2020 T
KMT2E     ACGC_M8314chr7:
104752467-104752467		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C4264T
c.C4264T		p.R1422C
p.R1422C		23.31.648E-5Wang2020 T
KMT2E     Gecz4_47470chr7:
104681466-104681469		TCAGTAAAexonicUnknownnonframeshift substitutionNM_018682
NM_182931		c.68_70AAA
c.68_70AAA		N/A
N/A		--Wang2020 T
KMT2E     Gecz4_47372chr7:
104681466-104681469		TCAGTAAAexonicUnknownnonframeshift substitutionNM_018682
NM_182931		c.68_70AAA
c.68_70AAA		N/A
N/A		--Wang2020 T
KMT2E     ACGC_M32511chr7:
104748334-104748334		GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G3430A
c.G3430A		p.G1144R
p.G1144R		29.98.313E-6Wang2020 T
KMT2E     109580-100chr7:
104752482-104752482		CTexonicInheritedstopgainNM_018682
NM_182931		c.C4279T
c.C4279T		p.Q1427X
p.Q1427X		57.0-Stessman2017 T
KMT2E     SP0050656chr7:
104746103-104746103		AGexonicDe novononsynonymous SNVNM_018682
NM_182931		c.A2414G
c.A2414G		p.K805R
p.K805R		16.08-Feliciano2019 E
Zhou2022 GE
KMT2E     ACGC_HN0231.p1chr7:
104748334-104748334		GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G3430A
c.G3430A		p.G1144R
p.G1144R		29.98.313E-6Wang2020 T
KMT2E     PN400530chr7:
104748307-104748307		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C3403T
c.C3403T		p.R1135W
p.R1135W		22.98.264E-6Leblond2019 E
KMT2E     ACGC_GX0509.p1chr7:
104742439-104742439		GAexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G1994A
c.G1994A		p.R665H
p.R665H		23.48.296E-6Wang2020 T
KMT2E     Leuven2_64484330chr7:
104730562-104730562		CTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.C1465T
c.C1465T		p.R489W
p.R489W		16.144.153E-5Wang2020 T
Source Variant Information

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Paper Information
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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.
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