Variant Results

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Results for "SUPV3L1"

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
SUPV3L1	111309	chr10: 70960062-70960062	C	G	exonic			nonsynonymous SNV	NM_003171 NM_001301683	c.C1325G c.C932G	p.S442C p.S311C	20.9	8.244E-6	Woodbury-Smith2022 E
SUPV3L1	AGG0112	chr10: 70962795-70962795	T	C	exonic		De novo	nonsynonymous SNV	NM_003171 NM_001301683	c.T1772C c.T1379C	p.L591S p.L460S	21.9	-	Fu2022 E
SUPV3L1	SP0060129	chr10: 70958131-70958131	C	G	exonic		De novo	nonsynonymous SNV	NM_003171 NM_001301683	c.C1027G c.C634G	p.R343G p.R212G	14.02	-	Fu2022 E Trost2022 G Zhou2022 GE
SUPV3L1	SP0058759	chr10: 70947420-70947420	A	AT	exonic		De novo	frameshift insertion	NM_003171 NM_001301683	c.481dupT c.88dupT	p.P160fs p.P29fs	-	-	Fu2022 E Trost2022 G Zhou2022 GE
SUPV3L1	1792_17AU	chr10: 70947577-70947578	AT	A	intronic		De novo					-	-	Fu2022 E
SUPV3L1	AU2194301	chr10: 70949355-70949359	TAAGA	T	intronic		De novo					-	-	Trost2022 G
SUPV3L1	SP0083545	chr10: 70951555-70951555	G	C	intronic		De novo					-	-	Fu2022 E
SUPV3L1	2-1715-004	chr10: 70968785-70968785	G	A	exonic		De novo	synonymous SNV	NM_003171 NM_001301683	c.G2355A c.G1962A	p.S785S p.S654S	-	8.434E-6	Trost2022 G Yuen2017 G Zhou2022 GE

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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