Variant Results

or

Results for "MYO5A"

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

MYO5A

MSSNG00031-003

chr15:
52668566-52668566

C

T

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.G2398A
c.G2398A

p.V800M
p.V800M

16.66

-

Trost2022 G
Zhou2022 GE

MYO5A

4-0077-003

chr15:
52689540-52689540

T

C

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.A1177G
c.A1177G

p.K393E
p.K393E

14.25

-

Trost2022 G
Zhou2022 GE

MYO5A

AU2433303

chr15:
52610395-52610395

G

A

intronic

De novo

-

Yuen2017 G

MYO5A

AU072505

chr15:
52735680-52735680

C

T

intronic

De novo

-

Yuen2017 G

MYO5A

iHART2844

chr15:
52688583-52688583

A

T

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.T1331A
c.T1331A

p.F444Y
p.F444Y

27.1

-

Ruzzo2019 G

MYO5A

iHART1691

chr15:
52611497-52611497

C

A

exonic

De novo

nonsynonymous SNV

NM_001142495
NM_000259

c.G4838T
c.G4919T

p.G1613V
p.G1640V

23.4

-

Ruzzo2019 G

MYO5A

7-0002-003

chr15:
52685466-52685466

T

TGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO5A

SP0032576

chr15:
52645809-52645809

G

T

exonic

De novo

stopgain

NM_000259
NM_001142495

c.C3614A
c.C3614A

p.S1205X
p.S1205X

43.0

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

MYO5A

AU228A

chr15:
52718114-52718114

A

C

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.T368G
c.T368G

p.I123S
p.I123S

21.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO5A

13942.p1

chr15:
52668933-52668933

G

C

intronic

De novo

-

Turner2016 G

MYO5A

1-0339-004

chr15:
52675339-52675339

G

T

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.C1961A
c.C1961A

p.T654N
p.T654N

24.3

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

MYO5A

SSC08169

chr15:
52643532-52643532

G

A

exonic

De novo

synonymous SNV

NM_000259
NM_001142495

c.C3768T
c.C3768T

p.S1256S
p.S1256S

-

5.796E-5

Fu2022 E
Trost2022 G

MYO5A

13946.p1

chr15:
52731551-52731551

C

T

intronic

De novo

-

Turner2016 G

MYO5A

14482.p1

chr15:
52821164-52821164

C

T

UTR5

De novo

-

Turner2016 G

MYO5A

5-0512-003

chr15:
52745011-52745011

C

G

intronic

De novo

-

Trost2022 G

MYO5A

mAGRE2844

chr15:
52688583-52688583

A

T

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.T1331A
c.T1331A

p.F444Y
p.F444Y

27.1

-

Cirnigliaro2023 G

MYO5A

5-0512-003

chr15:
52745662-52745662

A

AT

intronic

De novo

-

Trost2022 G

MYO5A

mAGRE1691

chr15:
52611497-52611497

C

A

exonic

De novo

nonsynonymous SNV

NM_001142495
NM_000259

c.G4838T
c.G4919T

p.G1613V
p.G1640V

23.4

-

Cirnigliaro2023 G

MYO5A

7-0012-003

chr15:
52683888-52683888

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO5A

AU2463301

chr15:
52612199-52612199

C

T

intronic

De novo

-

Trost2022 G

MYO5A

MSSNG00439-003

chr15:
52660550-52660550

G

C

intronic

De novo

-

Trost2022 G

MYO5A

SP0022671

chr15:
52632456-52632456

G

GGGCAGCTGCAGGTTCTGGGCC

exonic

De novo

nonframeshift insertion

NM_001142495
NM_000259

c.4094_4095insGGCCCAGAACCTGCAGCTGCC
c.4175_4176insGGCCCAGAACCTGCAGCTGCC

p.P1365delinsPAQNLQLP
p.P1392delinsPAQNLQLP

-

Fu2022 E
Zhou2022 GE

MYO5A

13543.p1

chr15:
52643532-52643532

G

A

exonic

De novo

synonymous SNV

NM_000259
NM_001142495

c.C3768T
c.C3768T

p.S1256S
p.S1256S

-

5.796E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE

MYO5A

2-0063-003

chr15:
52632541-52632541

G

A

exonic

De novo

nonsynonymous SNV

NM_001142495
NM_000259

c.C4010T
c.C4091T

p.A1337V
p.A1364V

13.85

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

MYO5A

615-05-104639

chr15:
52606359-52606359

A

C

exonic

De novo

nonsynonymous SNV

NM_001142495
NM_000259

c.T5295G
c.T5376G

p.F1765L
p.F1792L

25.8

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO5A

SP0034123

chr15:
52609264-52609264

T

C

exonic

De novo

nonsynonymous SNV

NM_001142495
NM_000259

c.A5234G
c.A5315G

p.N1745S
p.N1772S

9.367

2.484E-5

Fu2022 E
Zhou2022 GE

MYO5A

5-5171-003

chr15:
52604040-52604040

T

A

UTR3

De novo

-

Trost2022 G

MYO5A

14068.p1

chr15:
52675342-52675342

G

C

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.C1958G
c.C1958G

p.T653S
p.T653S

28.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

MYO5A

1-0161-003

chr15:
52751697-52751697

T

C

intronic

De novo

-

Yuen2017 G

MYO5A

1-0820-003

chr15:
52783280-52783280

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO5A

SP0083863

chr15:
52672133-52672133

C

T

intronic

De novo

-

Fu2022 E

MYO5A

1-0844-004

chr15:
52822227-52822227

A

G

upstream

De novo

-

Trost2022 G

MYO5A

1-1034-003

chr15:
52801262-52801262

G

A

intronic

De novo

-

Trost2022 G

MYO5A

2-0306-004

chr15:
52817107-52817107

T

A

intronic

De novo

-

Trost2022 G

MYO5A

P2M7G_01

chr15:
52782611-52782611

G

A

intronic

De novo

-

Trost2022 G

MYO5A

2-0733-003

chr15:
52787183-52787183

T

G

intronic

De novo

-

Trost2022 G

MYO5A

SSC10290

chr15:
52675342-52675342

G

C

exonic

De novo

nonsynonymous SNV

NM_000259
NM_001142495

c.C1958G
c.C1958G

p.T653S
p.T653S

28.6

-

Fu2022 E
Lim2017 E
Trost2022 G

MYO5A

1-0853-003

chr15:
52766445-52766445

G

C

intronic

De novo

-

Trost2022 G

MYO5A

AUTPGX_1020

chr15:
52779995-52779995

G

C

intronic

De novo

-

Trost2022 G

MYO5A

2-0295-004

chr15:
52805313-52805313

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO5A

AU3730301

chr15:
52610728-52610728

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO5A

2-1368-003

chr15:
52644087-52644087

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO5A

1-0448-003

chr15:
52629754-52629754

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 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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