Variant Results

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Results for "SCYL1"

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
SCYL1	5-0087-003	chr11: 65293255-65293255	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SCYL1	SP0078088	chr11: 65293285-65293285	A	T	intronic		De novo					-	-	Trost2022 G
SCYL1	SP0055532	chr11: 65299140-65299140	C	T	exonic		De novo	nonsynonymous SNV	NM_001048218 NM_020680	c.C1102T c.C1102T	p.R368C p.R368C	18.49	-	Fu2022 E Trost2022 G Zhou2022 GE
SCYL1	12073.p1	chr11: 65304530-65304530	G	A	exonic		De novo	synonymous SNV	NM_001048218 NM_020680	c.G1839A c.G1890A	p.E613E p.E630E	5.203	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
SCYL1	DEASD_0282_001	chr11: 65305524-65305539	GCAGGAGCCAAGCTCC	G	exonic		De novo	nonframeshift deletion	NM_001048218 NM_020680	c.2068_2082del c.2119_2133del	p.690_694del p.707_711del	-	-	Fu2022 E
SCYL1	5314	chr11: 65304530-65304530	G	A	exonic		De novo	synonymous SNV	NM_001048218 NM_020680	c.G1839A c.G1890A	p.E613E p.E630E	5.203	-	Fu2022 E
SCYL1	1360JS0006	chr11: 65306023-65306023	C	T	exonic		De novo	nonsynonymous SNV	NM_001048218 NM_020680	c.C2362T c.C2413T	p.R788W p.R805W	17.24	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SCYL1	7-0167-003	chr11: 65297034-65297034	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 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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