Variant Results

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Results for "SNX27"

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
SNX27	1-0232-004	chr1: 151587162-151587165	TAGA	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SNX27	AU015903	chr1: 151637157-151637157	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SNX27	SP0005601	chr1: 151584824-151584824	C	G	exonic		De novo	synonymous SNV	NM_030918	c.C147G	p.S49S	-	-	Feliciano2019 E Fu2022 E Trost2022 G Zhou2022 GE
SNX27	2-1433-004	chr1: 151595953-151595954	TC	GA	intronic		De novo					-	-	Trost2022 G
SNX27	AU2437302	chr1: 151586600-151586600	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SNX27	1-0652-004	chr1: 151635059-151635059	A	C	intronic		De novo					-	-	Trost2022 G
SNX27	7-0260-003	chr1: 151611899-151611899	C	G	intronic		De novo					-	-	Trost2022 G
SNX27	2016-24201	chr1: 151666073-151666077	ATTAG	A	exonic			frameshift deletion	NM_030918	c.1584_1587del	p.Y528fs	-	2.471E-5	Callaghan2019 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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