Variant Results

or

Results for "MYB"

Variant Events: 13

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

MYB

11470.p1

chr6:
135507151-135507151

G

A

exonic

De novo

nonsynonymous SNV

NM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_001161660
NM_005375

c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A

p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q

35.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
Zhou2022 GE

MYB

MSSNG00422-004

chr6:
135539006-135539006

G

A

exonic

De novo

nonsynonymous SNV

NM_001161657
NM_001161659
NM_001161660
NM_001130172
NM_005375
NM_001130173
NM_001161656
NM_001161658

c.G1556A
c.G1700A
c.G1706A
c.G1802A
c.G1811A
c.G2174A
c.G2165A
c.G2126A

p.C519Y
p.C567Y
p.C569Y
p.C601Y
p.C604Y
p.C725Y
p.C722Y
p.C709Y

8.516

-

Trost2022 G

MYB

MSSNG00202-003

chr6:
135518525-135518525

A

G

intronic

De novo

-

Trost2022 G

MYB

7-0105-003

chr6:
135528333-135528333

T

C

intronic

De novo

-

Trost2022 G

MYB

MR_593

chr6:
135560437-135560437

G

A

intergenic

De novo

-

1.0E-4

Satterstrom2020 E
Trost2022 G

MYB

AU006804

chr6:
135575749-135575749

C

G

intergenic

De novo

-

Yuen2017 G

MYB

SP0009650

chr6:
135515556-135515556

A

G

exonic

De novo

synonymous SNV

NM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_005375

c.A906G
c.A906G
c.A906G
c.A906G
c.A906G
c.A906G
c.A906G

p.L302L
p.L302L
p.L302L
p.L302L
p.L302L
p.L302L
p.L302L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYB

AU3702307

chr6:
135537375-135537375

G

A

intronic

De novo

-

Yuen2017 G

MYB

608968451487-C2

chr6:
135520122-135520122

A

C

exonic

De novo

nonsynonymous SNV

NM_001161657
NM_001161660
NM_001130172
NM_001161659
NM_005375
NM_001130173
NM_001161656
NM_001161658

c.A1025C
c.A1175C
c.A1271C
c.A1280C
c.A1280C
c.A1643C
c.A1634C
c.A1595C

p.H342P
p.H392P
p.H424P
p.H427P
p.H427P
p.H548P
p.H545P
p.H532P

16.54

-

Fu2022 E

MYB

REACH000731

chr6:
135512714-135512714

G

C

intronic

De novo

-

Trost2022 G

MYB

1-0569-003

chr6:
135503436-135503452

AGAGGAGGAGGAGGAGG

AGAGGAGGAGGAGG

intronic

De novo

-

Yuen2017 G

MYB

MSSNG00037-004A

chr6:
135513786-135513786

G

A

intronic

De novo

-

Trost2022 G

MYB

SSC02938

chr6:
135507151-135507151

G

A

exonic

De novo

nonsynonymous SNV

NM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_001161660
NM_005375

c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A

p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q

35.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

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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