Variant Results

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Results for "MYH1"

Variant Events: 8

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
MYH1	mAGRE5273	chr17: 10419890-10419890	G	A	exonic		Maternal	stopgain	NM_005963	c.C70T	p.R24X	28.5	4.0E-4	Cirnigliaro2023 G
MYH1	mAGRE2988	chr17: 10419890-10419890	G	A	exonic		Maternal	stopgain	NM_005963	c.C70T	p.R24X	28.5	4.0E-4	Cirnigliaro2023 G
MYH1	mAGRE4603	chr17: 10417349-10417353	TCTTC	T	exonic		Paternal	frameshift deletion	NM_005963	c.622_625del	p.E208fs	-	2.473E-5	Cirnigliaro2023 G
MYH1	160446	chr17: 10404047-10404047	C	T	exonic		De novo	nonsynonymous SNV	NM_005963	c.G3761A	p.R1254H	21.8	2.0E-4	Fu2022 E
MYH1	SP0042704	chr17: 10408192-10408192	C	T	exonic		De novo	nonsynonymous SNV	NM_005963	c.G2626A	p.E876K	15.55	-	Fu2022 E Trost2022 G Zhou2022 GE
MYH1	iHART2988	chr17: 10419890-10419890	G	A	exonic		Maternal	stopgain	NM_005963	c.C70T	p.R24X	28.5	4.0E-4	Ruzzo2019 G
MYH1	2-0309-003	chr17: 10406119-10406119	G	GT	exonic			frameshift insertion	NM_005963	c.3046_3047insA	p.A1016fs	-	-	Zhou2022 GE
MYH1	133343	chr17: 10411812-10411812	C	T	exonic			nonsynonymous SNV	NM_005963	c.G1765A	p.V589M	26.9	4.943E-5	Woodbury-Smith2022 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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