Variant Results

or

Results for "MYOM3"

Variant Events: 26

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

MYOM3

200675515@1082034250

chr1:
24387543-24387543

G

A

intronic

De novo

-

8.282E-6

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYOM3

SP0081495

chr1:
24389647-24389647

C

T

exonic

De novo

nonsynonymous SNV

NM_152372

c.G3739A

p.V1247M

10.89

5.801E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MYOM3

SP0030848

chr1:
24417549-24417549

C

T

intronic

De novo

-

Fu2022 E

MYOM3

1-1136-003

chr1:
24390159-24390159

C

T

intronic

De novo

-

Trost2022 G

MYOM3

REACH000504

chr1:
24413143-24413143

C

T

exonic

nonsynonymous SNV

NM_152372

c.G1789A

p.G597S

10.17

-

Zhou2022 GE

MYOM3

3-0052-000

chr1:
24437113-24437113

A

T

intronic

De novo

-

Trost2022 G

MYOM3

3-0090-001

chr1:
24383931-24383932

AC

A

exonic

De novo

frameshift deletion

NM_152372

c.4236delG

p.K1412fs

-

Trost2022 G
Zhou2022 GE

MYOM3

MCD-025-3

chr1:
24389694-24389694

C

T

exonic

Paternal

nonsynonymous SNV

NM_152372

c.G3692A

p.G1231E

17.39

2.0E-4

Tuncay2023 G

MYOM3

13143.p1

chr1:
24382501-24382501

T

C

downstream

De novo

-

Wilfert2021 G

MYOM3

111305

chr1:
24388532-24388532

T

A

exonic

nonsynonymous SNV

NM_152372

c.A3838T

p.I1280F

27.5

-

Woodbury-Smith2022 E

MYOM3

13424.p1

chr1:
24406581-24406581

G

A

exonic

De novo

synonymous SNV

NM_152372

c.C2511T

p.H837H

-

2.486E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MYOM3

MCD-025-3

chr1:
24387787-24387787

G

C

exonic

Maternal

nonsynonymous SNV

NM_152372

c.C3947G

p.A1316G

17.07

-

Tuncay2023 G

MYOM3

2-1644-004

chr1:
24430691-24430691

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM3

7-0249-004

chr1:
24422598-24422598

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM3

SSC07950

chr1:
24406581-24406581

G

A

exonic

De novo

synonymous SNV

NM_152372

c.C2511T

p.H837H

-

2.486E-5

Fu2022 E
Trost2022 G

MYOM3

1-0092-003

chr1:
24403310-24403310

G

GTTTCTTT

intronic

De novo

-

Yuen2017 G

MYOM3

200675515_1082034250

chr1:
24387543-24387543

G

A

intronic

De novo

-

8.282E-6

Fu2022 E

MYOM3

AU0146301

chr1:
24442128-24442130

CAA

CA

intergenic

De novo

-

Yuen2017 G

MYOM3

AU3903301

chr1:
24401301-24401301

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM3

iHART2747

chr1:
24418785-24418785

C

CG

exonic

Maternal

frameshift insertion

NM_152372

c.1110dupC

p.G371fs

-

2.0E-4

Ruzzo2019 G

MYOM3

mAGRE2748

chr1:
24418785-24418785

C

CG

exonic

Maternal

frameshift insertion

NM_152372

c.1110dupC

p.G371fs

-

2.0E-4

Cirnigliaro2023 G

MYOM3

mAGRE2747

chr1:
24418785-24418785

C

CG

exonic

Maternal

frameshift insertion

NM_152372

c.1110dupC

p.G371fs

-

2.0E-4

Cirnigliaro2023 G

MYOM3

AU2495302

chr1:
24411115-24411115

G

GA

exonic

Maternal

frameshift insertion

NM_152372

c.1812dupT

p.P605fs

-

3.36E-5

Cirnigliaro2023 G

MYOM3

AU2495301

chr1:
24411115-24411115

G

GA

exonic

Maternal

frameshift insertion

NM_152372

c.1812dupT

p.P605fs

-

3.36E-5

Cirnigliaro2023 G

MYOM3

AU1894304

chr1:
24411115-24411115

G

GA

exonic

Paternal

frameshift insertion

NM_152372

c.1812dupT

p.P605fs

-

3.36E-5

Cirnigliaro2023 G

MYOM3

iHART2748

chr1:
24418785-24418785

C

CG

exonic

Maternal

frameshift insertion

NM_152372

c.1110dupC

p.G371fs

-

2.0E-4

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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