Variant Results

or

or

Results for "MYBPC2"

Variant Events: 10

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
MYBPC2	iHART2083	chr19: 50946837-50946838	TC	T	exonic		Maternal	frameshift deletion	NM_004533	c.990delC	p.V330fs	-	1.753E-5	Ruzzo2019 G
MYBPC2	1-0201-005	chr19: 50958370-50958370	C	G	exonic		De novo	nonsynonymous SNV	NM_004533	c.C2020G	p.L674V	10.64	-	Yuen2017 G
MYBPC2	Codina-Sola2015:ASD_5	chr19: 50963307-50963308	GC	G	exonic		Maternal	frameshift deletion	NM_004533	c.2803delC	p.P935fs	-	9.0E-4	Codina-Sola2015 E
MYBPC2	Codina-Sola2015:ASD_27	chr19: 50963307-50963308	GC	G	exonic		Maternal	frameshift deletion	NM_004533	c.2803delC	p.P935fs	-	9.0E-4	Codina-Sola2015 E
MYBPC2	AU3398301	chr19: 50967477-50967477	C	T	intronic		De novo					-	-	Yuen2017 G
MYBPC2	1-0629-003	chr19: 50944697-50944697	G	T	intronic		De novo					-	-	Yuen2017 G
MYBPC2	SP0069549	chr19: 50962117-50962118	GC	G	intronic		De novo					-	-	Fu2022 E
MYBPC2	G01-GEA-41-HI	chr19: 50954554-50954554	G	A	exonic		De novo	nonsynonymous SNV	NM_004533	c.G1597A	p.V533I	17.55	8.301E-6	Fu2022 E Lim2017 E Satterstrom2020 E
MYBPC2	SP0053821	chr19: 50940985-50940985	G	A	intronic		De novo					-	2.839E-5	Fu2022 E
MYBPC2	SP0049937	chr19: 50958390-50958390	G	C	exonic		De novo	nonsynonymous SNV	NM_004533	c.G2040C	p.K680N	16.47	-	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
	More