Variant Results

or

or

Results for "MYH7"

Variant Events: 15

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

MYH7

AU004403

chr14:
23884501-23884501

C

T

intronic

De novo

-

-

Trost2022 G

MYH7

1-0345-004

chr14:
23929563-23929563

C

A

intergenic

De novo

-

-

Yuen2017 G

MYH7

iHART1972

chr14:
23897831-23897831

G

A

exonic

Maternal

stopgain

NM_000257

c.C1456T

p.Q486X

40.0

-

Ruzzo2019 G

MYH7

2-1763-003

chr14:
23904998-23904998

C

A

upstream

De novo

-

-

Trost2022 G

MYH7

mAGRE1976

chr14:
23897831-23897831

G

A

exonic

Maternal

stopgain

NM_000257

c.C1456T

p.Q486X

40.0

-

Cirnigliaro2023 G

MYH7

mAGRE1972

chr14:
23897831-23897831

G

A

exonic

Maternal

stopgain

NM_000257

c.C1456T

p.Q486X

40.0

-

Cirnigliaro2023 G

MYH7

7-0352-003

chr14:
23898515-23898515

C

T

exonic

De novo

nonsynonymous SNV

NM_000257

c.G1180A

p.D394N

17.97

-

Trost2022 G
Zhou2022 GE

MYH7

SP0099185

chr14:
23895002-23895002

T

A

exonic

nonsynonymous SNV

NM_000257

c.A2188T

p.I730F

29.8

-

Zhou2022 GE

MYH7

SP0050021

chr14:
23900998-23900998

C

T

exonic

nonsynonymous SNV

NM_000257

c.G611A

p.R204H

17.43

-

Zhou2022 GE

MYH7

MT_155.3

chr14:
23900821-23900821

G

A

exonic

De novo

synonymous SNV

NM_000257

c.C705T

p.T235T

-

Trost2022 G
Zhou2022 GE

MYH7

SP0048783

chr14:
23887577-23887577

C

T

exonic

synonymous SNV

NM_000257

c.G4011A

p.R1337R

-

-

Zhou2022 GE

MYH7

SP0111273

chr14:
23884208-23884208

T

TA

exonic

frameshift insertion

NM_000257

c.5554dupT

p.Y1852fs

-

-

Zhou2022 GE

MYH7

SP0070866

chr14:
23901996-23901996

C

T

exonic

synonymous SNV

NM_000257

c.G354A

p.S118S

-

Zhou2022 GE

MYH7

iHART1976

chr14:
23897831-23897831

G

A

exonic

Maternal

stopgain

NM_000257

c.C1456T

p.Q486X

40.0

-

Ruzzo2019 G

MYH7

1-0835-003

chr14:
23903641-23903641

G

A

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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