Variant Results

or

or

Results for "MYO3A"

Variant Events: 22

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

MYO3A

AU3052302

chr10:
26445771-26445771

C

T

intronic

De novo

-

-

Yuen2017 G

MYO3A

AU057405

chr10:
26389458-26389458

T

C

intronic

De novo

-

-

Yuen2017 G

MYO3A

iHART1520

chr10:
26500881-26500881

C

T

exonic

Maternal

stopgain

NM_017433

c.C4840T

p.Q1614X

40.0

Ruzzo2019 G

MYO3A

iHART2116

chr10:
26491987-26491987

C

T

exonic

Maternal

stopgain

NM_017433

c.C4681T

p.R1561X

44.0

Ruzzo2019 G

MYO3A

Cukier2014:17122

chr10:
26463052-26463052

C

A

exonic

Unknown

nonsynonymous SNV

NM_017433

c.C3859A

p.P1287T

0.829

Cukier2014 E

MYO3A

1-0354-003

chr10:
26338832-26338832

T

C

intronic

De novo

-

-

Yuen2017 G

MYO3A

2-1722-003

chr10:
26232879-26232879

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3A

1-0632-003

chr10:
26291555-26291555

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3A

12070.p1

chr10:
26455055-26455055

C

T

exonic

Mosaic

nonsynonymous SNV

NM_017433

c.C3059T

p.A1020V

14.37

-

Dou2017 E
Krupp2017 E

MYO3A

2-1241-003

chr10:
26461498-26461498

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3A

1-0683-003

chr10:
26291555-26291555

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3A

AU4145301

chr10:
26406414-26406414

A

G

intronic

De novo

-

-

Yuen2017 G

MYO3A

1-0541-004

chr10:
26291555-26291555

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3A

iHART3290

chr10:
26434464-26434464

G

GT

splicing

Paternal

splicing

-

-

Ruzzo2019 G

MYO3A

iHART2500

chr10:
26355941-26355941

C

T

exonic

Maternal

stopgain

NM_017433

c.C991T

p.R331X

18.25

Ruzzo2019 G

MYO3A

1-0104-004

chr10:
26298236-26298236

G

GCA

intronic

De novo

-

-

Yuen2017 G

MYO3A

iHART2467

chr10:
26457683-26457683

C

T

exonic

Paternal

stopgain

NM_017433

c.C3154T

p.R1052X

41.0

Ruzzo2019 G

MYO3A

iHART2868

chr10:
26457675-26457676

AT

A

exonic

Maternal

frameshift deletion

NM_017433

c.3147delT

p.N1049fs

-

Ruzzo2019 G

MYO3A

1-0683-004

chr10:
26291555-26291555

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3A

2-1131-003

chr10:
26405236-26405236

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3A

iHART2502

chr10:
26355941-26355941

C

T

exonic

Maternal

stopgain

NM_017433

c.C991T

p.R331X

18.25

Ruzzo2019 G

MYO3A

iHART2501

chr10:
26355941-26355941

C

T

exonic

Maternal

stopgain

NM_017433

c.C991T

p.R331X

18.25

Ruzzo2019 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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