Variant Results

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Results for "STRIP1"

Variant Events: 6

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
STRIP1	3-0471-000	chr1: 110584374-110584374	A	G	exonic		De novo	nonsynonymous SNV	NM_001270768 NM_033088	c.A491G c.A776G	p.N164S p.N259S	12.56	2.0E-4	Trost2022 G Zhou2022 GE
STRIP1	12426.p1	chr1: 110577319-110577319	C	T	exonic			synonymous SNV	NM_033088	c.C60T	p.P20P	-	-	Zhou2022 GE
STRIP1	SP0034309	chr1: 110589370-110589370	A	C	exonic		De novo	synonymous SNV	NM_001270768 NM_033088	c.A1200C c.A1485C	p.S400S p.S495S	-	-	Fu2022 E
STRIP1	AU073003	chr1: 110599053-110599053	C	T	intergenic		De novo					-	-	Yuen2017 G
STRIP1	08C77589	chr1: 110584430-110584431	GC	G	exonic		De novo	frameshift deletion	NM_001270768 NM_033088	c.548delC c.833delC	p.A183fs p.A278fs	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
STRIP1	12588.p1	chr1: 110584144-110584144	G	T	intronic		Mosaic					-	-	Dou2017 E

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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