Variant Results

or

Results for "MYO9B"

Variant Events: 31

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

MYO9B

16260-27149

chr19:
17318004-17318004

G

A

exonic

Inherited

nonsynonymous SNV

NM_001130065
NM_004145

c.G5575A
c.G5575A

p.D1859N
p.D1859N

21.9

-

Callaghan2019 G

MYO9B

2-0285-003

chr19:
17213124-17213124

C

T

exonic

De novo

synonymous SNV

NM_001130065
NM_004145

c.C597T
c.C597T

p.Y199Y
p.Y199Y

-

8.281E-6

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

MYO9B

1-0393-003

chr19:
17219160-17219160

C

T

intronic

De novo

-

Yuen2017 G

MYO9B

1-0628-004A

chr19:
17302323-17302323

G

A

intronic

De novo

-

Trost2022 G

MYO9B

AU050910

chr19:
17294563-17294563

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO9B

12501.p1

chr19:
17318044-17318044

A

G

exonic

De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.A5615G
c.A5615G

p.K1872R
p.K1872R

15.78

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MYO9B

5-0111-003

chr19:
17289470-17289470

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO9B

7-0100-004

chr19:
17308208-17308208

A

AGAT

intronic

De novo

-

Yuen2017 G

MYO9B

Viggiano2022:22.3

chr19:
17314011-17314011

C

T

exonic

Maternal

nonsynonymous SNV

NM_001130065
NM_004145

c.C4934T
c.C4934T

p.S1645L
p.S1645L

21.9

3.43E-5

Viggiano2022 GT

MYO9B

Viggiano2022:22.4

chr19:
17314011-17314011

C

T

exonic

Maternal

nonsynonymous SNV

NM_001130065
NM_004145

c.C4934T
c.C4934T

p.S1645L
p.S1645L

21.9

3.43E-5

Viggiano2022 GT

MYO9B

14018.p1

chr19:
17311468-17311468

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.C4393T
c.C4393T

p.R1465C
p.R1465C

7.918

5.324E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Zhou2022 GE

MYO9B

1842001

chr19:
17267819-17267819

G

A

exonic

De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.G1300A
c.G1300A

p.V434M
p.V434M

27.8

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO9B

DEASD_1014_001

chr19:
17308680-17308680

C

T

intronic

De novo

-

1.0E-4

Satterstrom2020 E
Trost2022 G

MYO9B

13870.p1

chr19:
17283123-17283123

A

G

intronic

De novo

-

8.356E-6

Satterstrom2020 E
Trost2022 G

MYO9B

SSC04927

chr19:
17318044-17318044

A

G

exonic

De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.A5615G
c.A5615G

p.K1872R
p.K1872R

15.78

-

Fu2022 E
Trost2022 G

MYO9B

7-0123-003

chr19:
17255176-17255176

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO9B

SP0073820

chr19:
17322714-17322714

G

A

exonic

De novo

synonymous SNV

NM_004145

c.G6069A

p.A2023A

-

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

MYO9B

SP0106423

chr19:
17278673-17278673

G

A

intronic

De novo

-

Trost2022 G

MYO9B

3-0736-000

chr19:
17291271-17291271

G

T

intronic

De novo

-

Trost2022 G

MYO9B

4-0090-003

chr19:
17236538-17236538

T

C

intronic

De novo

-

Trost2022 G

MYO9B

5-5030-003

chr19:
17249757-17249757

G

A

intronic

De novo

-

Trost2022 G

MYO9B

SP0026943

chr19:
17278706-17278706

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

MYO9B

MSSNG00196-003

chr19:
17207521-17207521

T

TG

intronic

De novo

-

Trost2022 G

MYO9B

SP0060222

chr19:
17278792-17278792

G

A

exonic

De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.G1711A
c.G1711A

p.G571S
p.G571S

18.09

2.11E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MYO9B

MSSNG00423-004

chr19:
17221109-17221109

C

G

intronic

De novo

-

Trost2022 G

MYO9B

AU134A

chr19:
17306176-17306176

C

T

exonic

De novo

nonsynonymous SNV

NM_001130065
NM_004145

c.C3940T
c.C3940T

p.R1314W
p.R1314W

14.7

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO9B

SP0048906

chr19:
17312839-17312839

T

G

intronic

De novo

-

Fu2022 E

MYO9B

ASDFI_764

chr19:
17311567-17311567

C

CG

exonic

De novo

frameshift insertion

NM_001130065
NM_004145

c.4493dupG
c.4493dupG

p.R1498fs
p.R1498fs

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

MYO9B

DEASD_1027_001

chr19:
17283750-17283750

C

T

exonic

De novo

synonymous SNV

NM_001130065
NM_004145

c.C2118T
c.C2118T

p.A706A
p.A706A

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO9B

SP0077932

chr19:
17294721-17294721

T

G

intronic

De novo

-

Fu2022 E

MYO9B

1-0291-003

chr19:
17200363-17200363

A

G

intronic

De novo

-

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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