Variant Results

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Results for "FNIP1"

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
FNIP1	AU4173301	chr5: 131058755-131058755	G	A	intronic		De novo					-	-	Yuen2017 G
FNIP1	2-1506-003	chr5: 130982455-130982455	A	C	intronic		De novo					-	-	Yuen2017 G
FNIP1	AU047703	chr5: 131138772-131138772	G	A	intergenic		De novo					-	-	Yuen2017 G
FNIP1	10C104773	chr5: 131013499-131013499	T	C	exonic		De novo	synonymous SNV	NM_001008738 NM_133372	c.A1332G c.A1416G	p.P444P p.P472P	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E Satterstrom2020 E
FNIP1	1-0158-003	chr5: 131039397-131039397	T	C	intronic		De novo					-	-	Yuen2017 G
FNIP1	AU3724302	chr5: 131043336-131043336	G	A	intronic		De novo					-	-	Yuen2017 G
FNIP1	SP0096975	chr5: 131006166-131006166	T	G	exonic		De novo	nonsynonymous SNV	NM_001008738 NM_133372	c.A3014C c.A3098C	p.H1005P p.H1033P	22.2	-	Fu2022 E
FNIP1	13951.p1	chr5: 131001561-131001561	C	T	intronic		De novo					-	-	Turner2016 G

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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