Variant Results

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Results for "NF2"

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
NF2	2-1416-004	chr22: 30039323-30039323	A	G	intronic		De novo					-	-	Yuen2017 G
NF2	11010.p1	chr22: 30090798-30090798	A	C	UTR3		De novo					17.6	5.0E-4	Satterstrom2020 E
NF2	TAS_F5044Y	chr22: 30032936-30032936	A	G	intronic		De novo					-	-	Satterstrom2020 E
NF2	P019	chr22: 30069261-30069261	C	T	exonic		De novo	nonsynonymous SNV	NM_181830 NM_181831 NM_181828 NM_181829 NM_000268 NM_016418 NM_181825 NM_181832	c.C877T c.C877T c.C1000T c.C1003T c.C1126T c.C1126T c.C1126T c.C1126T	p.R293W p.R293W p.R334W p.R335W p.R376W p.R376W p.R376W p.R376W	23.4	-	Long2019 ET
NF2	2-1322-003	chr22: 30075328-30075328	C	G	intronic		De novo					-	-	Yuen2017 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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