Variant Results

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Results for "NAGLU"

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
NAGLU	12070_p1	chr17: 40696040-40696040	C	T	exonic		De novo	synonymous SNV	NM_000263	c.C2016T	p.T672T	-	-	Fu2022 E
NAGLU	SMHC01887d000	chr17: 40688462-40688463	GC	G	exonic		De novo	frameshift deletion	NM_000263	c.173delC	p.A58fs	-	-	Yuan2023 E
NAGLU	SP0018069	chr17: 40689451-40689451	A	G	exonic		De novo	nonsynonymous SNV	NM_000263	c.A419G	p.Y140C	25.4	4.947E-5	Feliciano2019 E Fu2022 E
NAGLU	12070.p1	chr17: 40696040-40696040	C	T	exonic		De novo	synonymous SNV	NM_000263	c.C2016T	p.T672T	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
NAGLU	iHART1401	chr17: 40695235-40695235	G	A	exonic		Paternal	stopgain	NM_000263	c.G1211A	p.W404X	38.0	-	Ruzzo2019 G
NAGLU	iHART1403	chr17: 40695235-40695235	G	A	exonic		Paternal	stopgain	NM_000263	c.G1211A	p.W404X	38.0	-	Ruzzo2019 G
NAGLU	SP0114384	chr17: 40695022-40695022	G	C	intronic		De novo					-	-	Fu2022 E
NAGLU	SP0121462	chr17: 40696148-40696148	C	T	exonic		De novo	synonymous SNV	NM_000263	c.C2124T	p.F708F	-	4.97E-5	Fu2022 E
NAGLU	AU-16201	chr17: 40693137-40693137	G	A	exonic			nonsynonymous SNV	NM_000263	c.G934A	p.D312N	26.0	-	Doan2019 E

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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