Variant Results

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Results for "CYB5D2"

Variant Events: 4

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
CYB5D2	mAGRE5846	chr17: 4058151-4058151	A	AG	exonic		Paternal	frameshift insertion	NM_001254755 NM_001254756 NM_144611	c.240dupG c.240dupG c.576dupG	p.K80fs p.K80fs p.K192fs	-	4.335E-5	Cirnigliaro2023 G
CYB5D2	mAGRE1624	chr17: 4047055-4047055	G	GAGGCCTATAT	exonic		Paternal	frameshift insertion	NM_144611	c.6_7insAGGCCTATAT	p.L2fs	-	1.664E-5	Cirnigliaro2023 G
CYB5D2	iHART1624	chr17: 4047055-4047055	G	GAGGCCTATAT	exonic		Paternal	frameshift insertion	NM_144611	c.6_7insAGGCCTATAT	p.L2fs	-	1.664E-5	Ruzzo2019 G
CYB5D2	111302	chr17: 4060186-4060186	G	A	exonic			nonsynonymous SNV	NM_001254755 NM_001254756 NM_144611	c.G269A c.G269A c.G605A	p.G90D p.G90D p.G202D	25.4	-	Woodbury-Smith2022 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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