Variant Results

or

Results for "KMT2D"

Variant Events: 17

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

60-4031

chr12:
49433291-49433291

C

G

exonic

Inherited

nonsynonymous SNV

NM_003482

c.G8156C

p.S2719T

9.82

4.454E-5

Patowary2019 E

KMT2D

14023.p1

chr12:
49433800-49433800

C

G

exonic

Mosaic

nonsynonymous SNV

NM_003482

c.G7753C

p.G2585R

8.389

-

Dou2017 E
Krupp2017 E

KMT2D

SP0074544

chr12:
49426422-49426422

C

A

exonic

De novo

synonymous SNV

NM_003482

c.G12066T

p.T4022T

-

Fu2022 E
Zhou2022 GE

KMT2D

SP0012895

chr12:
49439989-49439989

A

C

intronic

De novo

-

Fu2022 E

KMT2D

14492.p1

chr12:
49440030-49440030

G

T

intronic

Mosaic Mat.

-

Dou2017 E

KMT2D

091-08-109377

chr12:
49448530-49448530

C

T

exonic

De novo

nonsynonymous SNV

NM_003482

c.G181A

p.G61S

15.39

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KMT2D

1-0469-005

chr12:
49440421-49440421

G

A

exonic

De novo

synonymous SNV

NM_003482

c.C4389T

p.T1463T

-

9.17E-5

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

KMT2D

SP0228933

chr12:
49416326-49416326

G

A

intronic

De novo

-

Trost2022 G

KMT2D

7-0397-003

chr12:
49440846-49440846

C

T

intronic

De novo

-

Trost2022 G

KMT2D

2-0309-005

chr12:
49444268-49444268

G

T

exonic

De novo

nonsynonymous SNV

NM_003482

c.C3103A

p.Q1035K

0.128

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

KMT2D

REACH000288

chr12:
49413033-49413033

C

T

UTR3

De novo

-

Trost2022 G
Trost2022 G

KMT2D

7-0427-003

chr12:
49445754-49445754

C

T

exonic

De novo

nonsynonymous SNV

NM_003482

c.G1712A

p.R571H

8.177

2.485E-5

Trost2022 G
Zhou2022 GE

KMT2D

V5T5W_01

chr12:
49437529-49437529

G

A

exonic

De novo

nonsynonymous SNV

NM_003482

c.C5356T

p.R1786C

12.19

1.659E-5

Trost2022 G
Zhou2022 GE

KMT2D

11776.p1

chr12:
49415648-49415648

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_003482

c.A16529G

p.Y5510C

8.661

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

KMT2D

470-09-112005

chr12:
49418485-49418485

C

T

exonic

De novo

nonsynonymous SNV

NM_003482

c.G15928A

p.G5310R

16.37

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KMT2D

SP0010083

chr12:
49425090-49425090

T

C

exonic

De novo

synonymous SNV

NM_003482

c.A13398G

p.L4466L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KMT2D

SSC02815

chr12:
49415648-49415648

T

C

exonic

De novo

nonsynonymous SNV

NM_003482

c.A16529G

p.Y5510C

8.661

-

Fu2022 E
Lim2017 E
Trost2022 G

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
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