Variant Results

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Results for "MYOCD"

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
MYOCD	Chen2017:115	chr17: 12656157-12656157	G	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.G1552T c.G1552T	p.D518Y p.D518Y	25.1	-	Chen2017 E
MYOCD	200675710@1082034126	chr17: 12656157-12656157	G	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.G1552T c.G1552T	p.D518Y p.D518Y	25.1	-	Satterstrom2020 E
MYOCD	AU4485302	chr17: 12569673-12569673	G	A	intronic		De novo					-	-	Yuen2017 G
MYOCD	AU2129301	chr17: 12611344-12611344	A	G	intronic		De novo					-	-	Yuen2017 G
MYOCD	200675710_1082034126	chr17: 12656157-12656157	G	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.G1552T c.G1552T	p.D518Y p.D518Y	25.1	-	Fu2022 E
MYOCD	SSC02627	chr17: 12620732-12620732	C	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.C247T c.C247T	p.L83F p.L83F	22.2	-	Fu2022 E Lim2017 E
MYOCD	11216.p1	chr17: 12620732-12620732	C	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.C247T c.C247T	p.L83F p.L83F	22.2	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
MYOCD	5L636	chr17: 12639634-12639634	G	T	exonic		De novo	nonsynonymous SNV	NM_001146312 NM_153604	c.G572T c.G572T	p.G191V p.G191V	0.006	-	Fu2022 E Satterstrom2020 E

Source Variant Information

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Paper Information

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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.
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