Variant Results

or

or

Results for "MYO3B"

Variant Events: 25

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

MYO3B

1-0452-003

chr2:
171216347-171216347

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

2-0043-003

chr2:
171169891-171169891

A

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

AU2458303

chr2:
171340795-171340795

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3B

111304

chr2:
171238543-171238543

C

T

exonic

nonsynonymous SNV

NM_001083615
NM_138995

c.C989T
c.C989T

p.T330I
p.T330I

28.6

-

Woodbury-Smith2022 E

MYO3B

A17

chr2:
171469693-171469693

T

C

intronic

De novo

-

-

Wu2018 G

MYO3B

2-1066-004

chr2:
171459685-171459685

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3B

2-0057-004

chr2:
171512782-171512782

A

AAAT

intergenic

De novo

-

-

Yuen2017 G

MYO3B

AU3586303

chr2:
171385237-171385237

C

T

intronic

De novo

-

-

Yuen2017 G

MYO3B

2-1160-003

chr2:
171395836-171395836

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

1-0285-003

chr2:
171065342-171065342

C

T

intronic

De novo

-

-

Yuen2017 G

MYO3B

A20

chr2:
171175585-171175585

A

G

intronic

De novo

-

-

Wu2018 G

MYO3B

iHART3046

chr2:
171262075-171262075

C

T

exonic

Maternal

stopgain

NM_001083615
NM_138995

c.C2452T
c.C2452T

p.R818X
p.R818X

40.0

Ruzzo2019 G

MYO3B

SP0039557

chr2:
171258107-171258107

G

A

exonic

De novo

nonsynonymous SNV

NM_001083615
NM_138995

c.G2035A
c.G2035A

p.V679I
p.V679I

18.18

Fu2022 E

MYO3B

iHART3044

chr2:
171262075-171262075

C

T

exonic

Maternal

stopgain

NM_001083615
NM_138995

c.C2452T
c.C2452T

p.R818X
p.R818X

40.0

Ruzzo2019 G

MYO3B

2-1129-003

chr2:
171105410-171105410

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

1-0299-004

chr2:
171280419-171280419

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3B

AU031204

chr2:
171336152-171336161

CATATATATA

CATATATA

intronic

De novo

-

-

Yuen2017 G

MYO3B

AU3847302

chr2:
171187370-171187370

G

A

intronic

De novo

-

-

Yuen2017 G

MYO3B

AU4029302

chr2:
171070796-171070796

A

G

intronic

De novo

-

-

Yuen2017 G

MYO3B

1-0436-003

chr2:
171398986-171398986

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

1-0408-003

chr2:
171438419-171438419

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYO3B

1-0445-003

chr2:
171211131-171211131

C

G

intronic

De novo

-

-

Yuen2017 G

MYO3B

1-0636-003

chr2:
171237074-171237076

AGG

AG

intronic

De novo

-

-

Yuen2017 G

MYO3B

14458.p1

chr2:
171248071-171248071

G

A

exonic

Mosaic Mat.

nonsynonymous SNV

NM_001083615
NM_138995

c.G1619A
c.G1619A

p.G540D
p.G540D

29.6

Dou2017 E

MYO3B

1-0555-003

chr2:
171257929-171257929

T

C

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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