Variant Results

or

Results for "MYO16"

Variant Events: 38

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

MYO16

1-0259-005

chr13:
110000613-110000613

A

AAAAAG

intergenic

De novo

-

Yuen2017 G

MYO16

AU026412

chr13:
109492370-109492370

C

A

intronic

De novo

-

Yuen2017 G

MYO16

AU3811301

chr13:
109990482-109990482

C

T

intergenic

De novo

-

Yuen2017 G

MYO16

AU4429301

chr13:
109854870-109854872

CAA

CAAAA

intronic

De novo

-

Yuen2017 G

MYO16

2-0013-003

chr13:
109878303-109878303

G

A

intergenic

De novo

-

Yuen2017 G

MYO16

AU3905301

chr13:
109456973-109456973

A

G

intronic

De novo

-

Yuen2017 G

MYO16

1-0706-003

chr13:
109318193-109318193

T

C

intronic

De novo

-

Yuen2017 G

MYO16

2-1174-006

chr13:
109744203-109744203

A

G

intronic

De novo

-

Yuen2017 G

MYO16

2-1184-003

chr13:
109727269-109727269

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYO16

2-0214-003

chr13:
109976068-109976068

A

ACATC

intergenic

De novo

-

Yuen2017 G

MYO16

AU3794302

chr13:
109871697-109871697

G

A

intergenic

De novo

-

Yuen2017 G

MYO16

DEASD_2165_001

chr13:
109792709-109792709

C

G

exonic

De novo

synonymous SNV

NM_001198950
NM_015011

c.C4149G
c.C4083G

p.G1383G
p.G1361G

-

Fu2022 E

MYO16

2-1426-003

chr13:
109600723-109600723

G

A

intronic

De novo

-

Yuen2017 G

MYO16

1-0571-003

chr13:
109406538-109406538

C

T

intronic

De novo

-

Yuen2017 G

MYO16

1-0923-003

chr13:
109527648-109527648

A

G

intronic

De novo

-

Yuen2017 G

MYO16

2-1265-003

chr13:
109848638-109848638

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYO16

SP0103438

chr13:
109496820-109496820

C

T

exonic

De novo

synonymous SNV

NM_001198950
NM_015011

c.C1227T
c.C1161T

p.S409S
p.S387S

-

1.652E-5

Fu2022 E

MYO16

Codina-Sola2015:ASD_36

chr13:
109644794-109644798

CAAGT

C

exonic

Maternal

frameshift deletion

NM_001198950
NM_015011

c.2441_2442del
c.2375_2376del

p.Q814fs
p.Q792fs

-

Codina-Sola2015 E

MYO16

1-0755-003

chr13:
109418163-109418163

C

T

intronic

De novo

-

Yuen2017 G

MYO16

2-1353-003

chr13:
109910961-109910961

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MYO16

AU4093302

chr13:
109495359-109495359

T

C

intronic

De novo

-

Yuen2017 G

MYO16

2-0214-004

chr13:
109976068-109976068

A

ACATC

intergenic

De novo

-

Yuen2017 G

MYO16

2-1094-005

chr13:
109349276-109349276

G

A

intronic

De novo

-

Yuen2017 G

MYO16

AU1988302

chr13:
109866061-109866061

G

A

intergenic

De novo

-

Yuen2017 G

MYO16

2-0149-005

chr13:
109466098-109466100

CTT

C

intronic

De novo

-

Yuen2017 G

MYO16

AU076704

chr13:
109845720-109845720

G

A

intronic

De novo

-

Yuen2017 G

MYO16

7-0128-003

chr13:
109722108-109722108

T

C

intronic

De novo

-

Yuen2017 G

MYO16

5-0045-003

chr13:
109920570-109920570

C

A

intergenic

De novo

-

Yuen2017 G

MYO16

AU3398301

chr13:
109930901-109930901

G

C

intergenic

De novo

-

Yuen2017 G

MYO16

1-0552-003

chr13:
109832890-109832890

C

A

intronic

De novo

-

Yuen2017 G

MYO16

A4

chr13:
109317069-109317069

T

C

intronic

De novo

-

Wu2018 G

MYO16

1-0558-003

chr13:
109628612-109628627

ATCTCTCTCTCTCTCT

ATCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

MYO16

11252.p1

chr13:
109966286-109966286

T

A

intergenic

De novo

-

Turner2016 G

MYO16

11493.p1

chr13:
109817311-109817311

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001198950
NM_015011

c.G5227A
c.G5161A

p.E1743K
p.E1721K

18.66

1.676E-5

Dou2017 E

MYO16

2-1362-004

chr13:
109406035-109406035

C

A

intronic

De novo

-

Yuen2017 G

MYO16

2-1142-003

chr13:
109586031-109586031

C

T

intronic

De novo

-

Yuen2017 G

MYO16

AU1933301

chr13:
109907946-109907946

T

C

intergenic

De novo

-

Yuen2017 G

MYO16

7-0253-005

chr13:
109578509-109578509

A

G

intronic

De novo

-

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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