Variant Results

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Results for "SERF2"

Variant Events: 5

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
SERF2	5-5046-007	chr15: 44082457-44082457	G	A	intronic		De novo					-	-	Trost2022 G
SERF2	1-0147-003	chr15: 44077428-44077429	GG	CA	intronic		De novo					-	-	Trost2022 G
SERF2	iHART2310	chr15: 44086133-44086134	AG	A	exonic		Paternal	frameshift deletion	NM_001199875 NM_001199876	c.477delG c.366delG	p.Q159fs p.Q122fs	-	-	Ruzzo2019 G
SERF2	AU4122301	chr15: 44073730-44073734	CAAAA	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SERF2	mAGRE2310	chr15: 44086133-44086134	AG	A	exonic		Paternal	frameshift deletion	NM_001199875 NM_001199876	c.477delG c.366delG	p.Q159fs p.Q122fs	-	-	Cirnigliaro2023 G

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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