Variant Results

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Results for "ADAMTSL4"

Variant Events: 9

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
ADAMTSL4	14441.p1	chr1: 150529511-150529511	C	T	exonic		De novo	nonsynonymous SNV	NM_019032 NM_025008 NM_001288608	c.C1846T c.C1846T c.C1915T	p.P616S p.P616S p.P639S	6.805	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ADAMTSL4	1-0757-003	chr1: 150531706-150531706	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ADAMTSL4	14316.p1	chr1: 150526082-150526082	C	T	exonic		De novo	synonymous SNV	NM_001288607 NM_001288608 NM_019032 NM_025008	c.C615T c.C615T c.C615T c.C615T	p.S205S p.S205S p.S205S p.S205S	-	1.0E-4	Krumm2015 E
ADAMTSL4	SP0045928	chr1: 150529170-150529170	C	T	exonic		De novo	synonymous SNV	NM_019032 NM_025008 NM_001288607 NM_001288608	c.C1650T c.C1650T c.C1719T c.C1719T	p.A550A p.A550A p.A573A p.A573A	-	7.445E-5	Fu2022 E Trost2022 G Zhou2022 GE
ADAMTSL4	SP0113163	chr1: 150531950-150531950	T	C	intronic		De novo					-	-	Fu2022 E Trost2022 G Zhou2022 GE
ADAMTSL4	SP0100626	chr1: 150531342-150531342	G	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
ADAMTSL4	70522	chr1: 150529511-150529511	C	T	exonic		De novo	nonsynonymous SNV	NM_019032 NM_025008 NM_001288608	c.C1846T c.C1846T c.C1915T	p.P616S p.P616S p.P639S	6.805	-	Fu2022 E Trost2022 G
ADAMTSL4	2-1734-004	chr1: 150527171-150527171	G	A	intronic		De novo					-	-	Trost2022 G
ADAMTSL4	1670021	chr1: 150527937-150527937	C	T	exonic		De novo	nonsynonymous SNV	NM_019032 NM_025008 NM_001288607 NM_001288608	c.C1267T c.C1267T c.C1336T c.C1336T	p.R423W p.R423W p.R446W p.R446W	20.7	1.664E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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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