Variant Results

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Results for "DPYSL5"

Variant Events: 10

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
DPYSL5	1-0347-003	chr2: 27074847-27074847	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
DPYSL5	3-0832-000	chr2: 27161051-27161051	G	A	intronic		De novo					-	-	Trost2022 G
DPYSL5	7-0225-003	chr2: 27123545-27123545	G	C	intronic		De novo					-	-	Trost2022 G
DPYSL5	2-1562-004	chr2: 27170503-27170503	G	A	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
DPYSL5	1-0150-003	chr2: 27157805-27157805	A	AAGTATAAGAGTGAAGAGCACATAT	intronic		De novo					-	-	Yuen2017 G
DPYSL5	PN400350	chr2: 27121458-27121458	G	A	exonic		Unknown	nonsynonymous SNV	NM_001253723 NM_001253724 NM_020134	c.G91A c.G91A c.G91A	p.E31K p.E31K p.E31K	34.0	1.647E-5	Leblond2019 E
DPYSL5	465-09-112072	chr2: 27164777-27164777	C	G	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
DPYSL5	2-0304-003	chr2: 27103263-27103263	G	GT	intronic		De novo					-	-	Trost2022 G Yuen2017 G
DPYSL5	AU04203	chr2: 27164818-27164818	G	A	exonic		De novo	nonsynonymous SNV	NM_001253723 NM_001253724 NM_020134	c.G1090A c.G1090A c.G1090A	p.V364I p.V364I p.V364I	15.91	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
DPYSL5	7-0077-003	chr2: 27165747-27165747	C	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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