Variant Results

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Results for "MYH7B"

Variant Events: 14

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

MYH7B

14293.p1

chr20:
33575348-33575348

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

MYH7B

iHART1876

chr20:
33575451-33575451

C

A

exonic

Maternal

stopgain

NM_020884

c.C1365A

p.Y455X

20.9

Ruzzo2019 G

MYH7B

200675376@1082034681

chr20:
33567509-33567509

C

G

exonic

De novo

nonsynonymous SNV

NM_020884

c.C370G

p.R124G

16.81

Satterstrom2020 E

MYH7B

iHART2158

chr20:
33568838-33568838

C

T

exonic

Paternal

stopgain

NM_020884

c.C628T

p.R210X

27.8

Ruzzo2019 G

MYH7B

iHART1875

chr20:
33575451-33575451

C

A

exonic

Maternal

stopgain

NM_020884

c.C1365A

p.Y455X

20.9

Ruzzo2019 G

MYH7B

Chen2017:21

chr20:
33567509-33567509

C

G

exonic

De novo

nonsynonymous SNV

NM_020884

c.C370G

p.R124G

16.81

Chen2017 E

MYH7B

PN400506

chr20:
33584197-33584197

C

T

exonic

Inherited

nonsynonymous SNV

NM_020884

c.C3118T

p.R1040W

20.6

Leblond2019 E

MYH7B

09C80346

chr20:
33578059-33578059

G

A

exonic

De novo

synonymous SNV

NM_020884

c.G2049A

p.V683V

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MYH7B

200675376_1082034681

chr20:
33567509-33567509

C

G

exonic

De novo

nonsynonymous SNV

NM_020884

c.C370G

p.R124G

16.81

Fu2022 E

MYH7B

4915

chr20:
33581221-33581221

C

G

exonic

De novo

nonsynonymous SNV

NM_020884

c.C2518G

p.R840G

10.66

-

Fu2022 E

MYH7B

SP0048375

chr20:
33575185-33575185

A

C

intronic

De novo

-

-

Fu2022 E

MYH7B

11749.p1

chr20:
33588702-33588702

G

C

intronic

De novo

-

-

Satterstrom2020 E

MYH7B

SP0152806

chr20:
33574023-33574023

G

A

intronic

De novo

-

Fu2022 E

MYH7B

SP0032113

chr20:
33586580-33586580

G

A

exonic

De novo

nonsynonymous SNV

NM_020884

c.G4178A

p.R1393Q

35.0

Fu2022 E

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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