Variant Results

or

or

Results for "MYO9A"

Variant Events: 28

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

MYO9A

1-0226-005

chr15:
72264579-72264579

C

T

intronic

De novo

-

-

Yuen2017 G

MYO9A

2-1276-003

chr15:
72166811-72166811

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO9A

3-0216-000

chr15:
72189998-72189998

T

A

exonic

De novo

nonsynonymous SNV

NM_006901

c.A4846T

p.T1616S

8.378

-

Yuen2017 G

MYO9A

Cukier2014:17302

chr15:
72189952-72189952

T

A

exonic

Unknown

nonsynonymous SNV

NM_006901

c.A4892T

p.N1631I

13.53

Cukier2014 E

MYO9A

AU3729301

chr15:
72222491-72222491

T

G

intronic

De novo

-

-

Yuen2017 G

MYO9A

1-0233-004

chr15:
72118339-72118339

T

TTG

downstream

De novo

-

-

Yuen2017 G

MYO9A

7-0035-003

chr15:
72354328-72354328

G

C

intronic

De novo

-

-

Yuen2017 G

MYO9A

2-1315-003

chr15:
72251167-72251167

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO9A

AU3811305

chr15:
72253391-72253392

GT

GTT

intronic

De novo

-

-

Yuen2017 G

MYO9A

AU1725306

chr15:
72136674-72136674

C

T

intronic

De novo

-

-

Yuen2017 G

MYO9A

1-0332-003

chr15:
72121992-72121992

A

C

intronic

De novo

-

-

Yuen2017 G

MYO9A

7-0128-003

chr15:
72137464-72137464

A

C

intronic

De novo

-

-

Yuen2017 G

MYO9A

1-0274-003

chr15:
72248357-72248357

T

TG

intronic

De novo

-

-

Yuen2017 G

MYO9A

2-0003-003

chr15:
72258979-72258979

C

T

intronic

De novo

-

-

Yuen2017 G

MYO9A

1-0112-004

chr15:
72406445-72406445

A

G

intronic

De novo

-

-

Yuen2017 G

MYO9A

Cukier2014:17122

chr15:
72189952-72189952

T

A

exonic

Unknown

nonsynonymous SNV

NM_006901

c.A4892T

p.N1631I

13.53

Cukier2014 E

MYO9A

2-0319-004

chr15:
72345275-72345275

A

T

intronic

De novo

-

-

Yuen2017 G

MYO9A

928-19074

chr15:
72186120-72186120

C

T

splicing

splicing

14.6

Callaghan2019 G

MYO9A

1876-23644

chr15:
72186120-72186120

C

T

splicing

splicing

14.6

Callaghan2019 G

MYO9A

SP0096818

chr15:
72208832-72208832

T

A

exonic

De novo

nonsynonymous SNV

NM_006901

c.A2564T

p.H855L

27.4

-

Fu2022 E

MYO9A

2-1442-003

chr15:
72354191-72354191

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO9A

2-1577-003

chr15:
72190076-72190076

A

T

exonic

De novo

nonsynonymous SNV

NM_006901

c.T4768A

p.S1590T

0.003

-

Yuen2017 G

MYO9A

SP0125643

chr15:
72338049-72338049

A

G

intronic

De novo

-

-

Fu2022 E

MYO9A

SP0023043

chr15:
72260349-72260349

A

G

exonic

De novo

synonymous SNV

NM_006901

c.T1962C

p.A654A

-

-

Fu2022 E

MYO9A

AU3649304

chr15:
72393150-72393150

A

G

intronic

De novo

-

-

Yuen2017 G

MYO9A

1-0448-003

chr15:
72372319-72372319

A

G

intronic

De novo

-

-

Yuen2017 G

MYO9A

7-0024-003

chr15:
72281296-72281296

C

T

intronic

De novo

-

-

Yuen2017 G

MYO9A

SP0010081

chr15:
72190403-72190405

CTG

C

exonic

De novo

frameshift deletion

NM_006901

c.4439_4440del

p.T1480fs

-

-

Feliciano2019 E
Fu2022 E

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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