Variant Results

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Results for "MYH4"

Variant Events: 9

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
MYH4	Viggiano2022:22.4	chr17: 10362663-10362663	C	T	exonic		Paternal	nonsynonymous SNV	NM_017533	c.G1492A	p.V498M	33.0	6.589E-5	Viggiano2022 GT
MYH4	Viggiano2022:22.3	chr17: 10362663-10362663	C	T	exonic		Paternal	nonsynonymous SNV	NM_017533	c.G1492A	p.V498M	33.0	6.589E-5	Viggiano2022 GT
MYH4	iHART1731	chr17: 10362623-10362623	C	CA	exonic		Paternal	frameshift insertion	NM_017533	c.1531dupT	p.W511fs	-	4.943E-5	Ruzzo2019 G
MYH4	GEA380	chr17: 10346799-10346799	G	A	exonic		De novo	nonsynonymous SNV	NM_017533	c.C5713T	p.H1905Y	29.2	-	Fu2022 E
MYH4	iHART1730	chr17: 10362623-10362623	C	CA	exonic		Paternal	frameshift insertion	NM_017533	c.1531dupT	p.W511fs	-	4.943E-5	Ruzzo2019 G
MYH4	10001071002700288-C	chr17: 10366205-10366205	G	A	exonic		De novo	stopgain	NM_017533	c.C985T	p.Q329X	34.0	-	Fu2022 E
MYH4	08C74281	chr17: 10355401-10355401	T	C	exonic		De novo	nonsynonymous SNV	NM_017533	c.A3595G	p.K1199E	17.04	-	Fu2022 E Satterstrom2020 E
MYH4	1-0277-003	chr17: 10355401-10355401	T	C	exonic		De novo	nonsynonymous SNV	NM_017533	c.A3595G	p.K1199E	17.04	-	Yuen2016 G Yuen2017 G
MYH4	12623.p1	chr17: 10354727-10354727	T	G	exonic		Mosaic Mat.	nonsynonymous SNV	NM_017533	c.A3781C	p.S1261R	21.6	0.0032	Dou2017 E

Source Variant Information

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Paper Information

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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.
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