Variant Results

or

Results for "KMT2B"

Variant Events: 25

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

7-0081-003

chr19:
36209394-36209394

C

T

intronic

De novo

-

Trost2022 G

KMT2B

12123.p1

chr19:
36211143-36211143

T

G

exonic

De novo

synonymous SNV

NM_014727

c.T894G

p.G298G

-

4.312E-5

Krumm2015 E
Lim2017 E
Zhou2022 GE

KMT2B

SP0117843

chr19:
36209139-36209139

C

A

exonic

De novo

synonymous SNV

NM_014727

c.C219A

p.L73L

-

Trost2022 G

KMT2B

14329.p1

chr19:
36222846-36222846

T

G

exonic

De novo

nonsynonymous SNV

NM_014727

c.T5475G

p.D1825E

4.18

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

KMT2B

SSC11980

chr19:
36222846-36222846

T

G

exonic

De novo

nonsynonymous SNV

NM_014727

c.T5475G

p.D1825E

4.18

-

Fu2022 E
Lim2017 E
Trost2022 G

KMT2B

Lim2017:70228

chr19:
36218664-36218664

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C4368T

p.F1456F

-

7.483E-5

Lim2017 E

KMT2B

SP0132571

chr19:
36228120-36228120

G

A

exonic

De novo

synonymous SNV

NM_014727

c.G7506A

p.P2502P

-

1.0E-4

Fu2022 E
Trost2022 G

KMT2B

1245011

chr19:
36221666-36221666

C

T

exonic

De novo

stopgain

NM_014727

c.C5335T

p.R1779X

45.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KMT2B

SP0078841

chr19:
36213910-36213910

G

A

exonic

De novo

synonymous SNV

NM_014727

c.G2736A

p.A912A

-

1.232E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

KMT2B

1-0054-003

chr19:
36218109-36218109

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C4056T

p.S1352S

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

KMT2B

SP0139276

chr19:
36224319-36224319

C

T

exonic

De novo

nonsynonymous SNV

NM_014727

c.C6869T

p.P2290L

14.87

-

Fu2022 E
Zhou2022 GE

KMT2B

130078

chr19:
36223477-36223477

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C6027T

p.A2009A

-

1.0E-4

Fu2022 E

KMT2B

70228

chr19:
36218664-36218664

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C4368T

p.F1456F

-

7.483E-5

Fu2022 E
Trost2022 G

KMT2B

Cukier2014:17342

chr19:
36216691-36216691

C

T

exonic

Unknown

nonsynonymous SNV

NM_014727

c.C3857T

p.T1286I

16.79

4.13E-5

Cukier2014 E

KMT2B

SP0004355

chr19:
36214396-36214396

C

T

exonic

De novo

nonsynonymous SNV

NM_014727

c.C3050T

p.A1017V

10.3

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

KMT2B

12123_p1

chr19:
36211143-36211143

T

G

exonic

De novo

synonymous SNV

NM_014727

c.T894G

p.G298G

-

4.312E-5

Fu2022 E

KMT2B

SP0045275

chr19:
36214171-36214181

CTGTGTGTGAG

C

exonic

frameshift deletion

NM_014727

c.2998_3002del

p.C1000fs

-

Antaki2022 GE
Zhou2022 GE

KMT2B

200675503_1082034995

chr19:
36221712-36221712

A

C

exonic

De novo

nonsynonymous SNV

NM_014727

c.A5381C

p.H1794P

10.86

-

Fu2022 E

KMT2B

Bruno2021:XXI

chr19:
36214675-36214675

A

C

exonic

De novo

nonsynonymous SNV

NM_014727

c.A3101C

p.E1034A

13.3

-

Bruno2021 E

KMT2B

12264.p1

chr19:
36208922-36208922

T

TGGCGGC

exonic

nonframeshift insertion

NM_014727

c.2_3insGGCGGC

p.M1delinsMAA

-

Zhou2022 GE

KMT2B

11409.p1

chr19:
36218664-36218664

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C4368T

p.F1456F

-

7.483E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

KMT2B

2-0238-003

chr19:
36228816-36228816

C

T

exonic

De novo

nonsynonymous SNV

NM_014727

c.C7715T

p.T2572M

8.986

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

KMT2B

AU4376301

chr19:
36214045-36214045

C

T

exonic

De novo

synonymous SNV

NM_014727

c.C2871T

p.H957H

-

2.0E-4

Trost2022 G
Yuen2017 G
Zhou2022 GE

KMT2B

21189-33353

chr19:
36218786-36218786

G

A

exonic

Inherited

nonsynonymous SNV

NM_014727

c.G4397A

p.S1466N

13.64

-

Callaghan2019 G

KMT2B

Wang2023:449

chr19:
36220952-36220952

C

T

exonic

De novo

nonsynonymous SNV

NM_014727

c.C5002T

p.R1668W

19.31

-

Wang2023 E

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 notes	View
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