Variant Results

or

Results for "MYO3B"

Variant Events: 64

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

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

-

Trost2022 G
Yuen2017 G

MYO3B

2-1066-004

chr2:
171459685-171459685

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

2-1160-003

chr2:
171395836-171395836

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 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

4.144E-5

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

4.143E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MYO3B

iHART3044

chr2:
171262075-171262075

C

T

exonic

Maternal

stopgain

NM_001083615
NM_138995

c.C2452T
c.C2452T

p.R818X
p.R818X

40.0

4.144E-5

Ruzzo2019 G

MYO3B

1-0299-004

chr2:
171280419-171280419

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

AU031204

Complex Event; expand row to view variants

De novo

-

Trost2022 G
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

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO3B

1-0408-003

chr2:
171438419-171438419

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO3B

1-0636-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

1-0555-003

chr2:
171257929-171257929

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

1-0452-003

chr2:
171216347-171216347

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO3B

MT_69.3

chr2:
171096186-171096186

A

G

intronic

De novo

-

Trost2022 G

MYO3B

MSSNG00013-004

chr2:
171099713-171099713

A

G

intronic

De novo

-

Trost2022 G

MYO3B

5-5177-003

chr2:
171044155-171044155

G

A

intronic

De novo

-

Trost2022 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

2-0057-004

chr2:
171512782-171512782

A

AAAT

intergenic

De novo

-

Yuen2017 G

MYO3B

AU3586303

chr2:
171385237-171385237

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

MCD-022-3

chr2:
171256771-171256771

C

T

exonic

Maternal

nonsynonymous SNV

NM_001083615
NM_138995

c.C1865T
c.C1865T

p.S622F
p.S622F

32.0

2.0E-4

Tuncay2023 G

MYO3B

REACH000414

chr2:
171245749-171245749

G

T

intronic

De novo

-

Trost2022 G

MYO3B

1-0285-003

chr2:
171065342-171065342

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO3B

5-5040-003

chr2:
171255414-171255414

A

C

intronic

De novo

-

Trost2022 G

MYO3B

7-0356-003

chr2:
171183692-171183692

C

T

intronic

De novo

-

Trost2022 G

MYO3B

2-1763-003

chr2:
171192651-171192651

C

A

intronic

De novo

-

Trost2022 G

MYO3B

5-5024-003

chr2:
171167943-171167946

GTTT

G

intronic

De novo

-

Trost2022 G

MYO3B

MCD-022-3

chr2:
171355116-171355116

C

A

exonic

Paternal

nonsynonymous SNV

NM_001083615
NM_138995

c.C3029A
c.C3029A

p.A1010E
p.A1010E

29.4

1.657E-5

Tuncay2023 G

MYO3B

5-5024-003

chr2:
171167948-171167948

T

G

intronic

De novo

-

Trost2022 G

MYO3B

3-0719-000

chr2:
171107308-171107308

G

A

intronic

De novo

-

Trost2022 G

MYO3B

AU059003

chr2:
171119165-171119165

G

A

intronic

De novo

-

Trost2022 G

MYO3B

2-1504-003

chr2:
171373331-171373331

C

T

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE3044

chr2:
171262075-171262075

C

T

exonic

Maternal

stopgain

NM_001083615
NM_138995

c.C2452T
c.C2452T

p.R818X
p.R818X

40.0

4.144E-5

Cirnigliaro2023 G

MYO3B

4-0062-003

chr2:
171375016-171375017

AA

TT

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE4576

chr2:
171225889-171225889

T

C

splicing

Paternal

splicing

14.02

8.373E-6

Cirnigliaro2023 G

MYO3B

A20

chr2:
171175585-171175585

A

G

intronic

De novo

-

Wu2018 G

MYO3B

L7H6W_01

chr2:
171329060-171329060

G

A

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE4945

chr2:
171071263-171071263

C

T

exonic

Paternal

stopgain

NM_001083615
NM_138995

c.C451T
c.C451T

p.R151X
p.R151X

36.0

8.291E-6

Cirnigliaro2023 G

MYO3B

2-1642-003A

chr2:
171368663-171368663

G

A

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE5852

chr2:
171056783-171056784

CT

C

exonic

Paternal

frameshift deletion

NM_001083615
NM_138995

c.311delT
c.311delT

p.L104fs
p.L104fs

-

1.677E-5

Cirnigliaro2023 G

MYO3B

1-1134-003

chr2:
171323505-171323505

G

A

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE5850

chr2:
171056783-171056784

CT

C

exonic

Paternal

frameshift deletion

NM_001083615
NM_138995

c.311delT
c.311delT

p.L104fs
p.L104fs

-

1.677E-5

Cirnigliaro2023 G

MYO3B

2-1287-003

chr2:
171326839-171326839

A

G

intronic

De novo

-

Trost2022 G

MYO3B

5-5046-007

chr2:
171289213-171289213

A

G

intronic

De novo

-

Trost2022 G

MYO3B

MSSNG00379-003

chr2:
171294102-171294102

A

G

intronic

De novo

-

Trost2022 G

MYO3B

7-0143-004

chr2:
171462367-171462367

C

T

intronic

De novo

-

Trost2022 G

MYO3B

MSSNG00052-003

chr2:
171509119-171509119

T

G

intronic

De novo

-

Trost2022 G

MYO3B

1-0410-003

chr2:
171439416-171439416

A

C

intronic

De novo

-

Trost2022 G

MYO3B

3-0640-000

chr2:
171459989-171459989

T

G

intronic

De novo

-

Trost2022 G

MYO3B

MT_30.3

chr2:
171424750-171424750

A

G

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE5878

chr2:
171509532-171509534

ATC

A

exonic

Paternal

frameshift deletion

NM_001083615
NM_138995

c.3847_3848del
c.3928_3929del

p.S1283fs
p.S1310fs

-

8.282E-6

Cirnigliaro2023 G

MYO3B

2-1129-003

chr2:
171105410-171105410

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO3B

MSSNG00390-003

chr2:
171427249-171427249

G

A

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE6021

chr2:
171400439-171400439

T

TA

exonic

Maternal

frameshift insertion

NM_001083615
NM_138995

c.3594dupA
c.3675dupA

p.I1198fs
p.I1225fs

-

2.0E-4

Cirnigliaro2023 G

MYO3B

AU3847302

chr2:
171187370-171187370

G

A

intronic

De novo

-

Yuen2017 G

MYO3B

MSSNG00003-003

chr2:
171377542-171377542

G

A

intronic

De novo

-

Trost2022 G

MYO3B

AU3302302

chr2:
171400439-171400439

T

TA

exonic

Maternal

frameshift insertion

NM_001083615
NM_138995

c.3594dupA
c.3675dupA

p.I1198fs
p.I1225fs

-

2.0E-4

Cirnigliaro2023 G

MYO3B

REACH000341

chr2:
171411676-171411676

A

C

intronic

De novo

-

Trost2022 G

MYO3B

mAGRE3046

chr2:
171262075-171262075

C

T

exonic

Maternal

stopgain

NM_001083615
NM_138995

c.C2452T
c.C2452T

p.R818X
p.R818X

40.0

4.144E-5

Cirnigliaro2023 G

MYO3B

1-0445-003

chr2:
171211131-171211131

C

G

intronic

De novo

-

Trost2022 G
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

4.217E-5

Dou2017 E

MYO3B

4-0062-003

chr2:
171512089-171512091

CCC

GAG

downstream

De novo

-

Trost2022 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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