Variant Results

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Results for "AASDH"

Variant Events: 6

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
AASDH	13323.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_001286668 NM_001286671 NM_001286672 NM_181806 NM_001286668 NM_001286671 NM_001286672 NM_181806	c.41dupA c.341dupA c.341dupA c.341dupA c.42dupA c.342dupA c.342dupA c.342dupA	p.K14fs p.K114fs p.K114fs p.K114fs p.Q15fs p.Q115fs p.Q115fs p.Q115fs	-	3.0E-4	Ji2016 E Krumm2015 E Satterstrom2020 E Wilfert2021 G
AASDH	AU2569303	chr4: 57255241-57255243	AGG	AG	intergenic		De novo					-	-	Yuen2017 G
AASDH	G01-GEA-148-HI	chr4: 57244382-57244382	C	T	exonic		De novo	synonymous SNV	NM_001286668 NM_001286669 NM_001286671 NM_001286672 NM_181806	c.G300A c.G141A c.G600A c.G600A c.G600A	p.G100G p.G47G p.G200G p.G200G p.G200G	-	4.944E-5	Satterstrom2020 E
AASDH	iHART2473	chr4: 57204775-57204775	G	GTAGT	exonic		Paternal	stopgain	NM_001286670 NM_001286668 NM_001286669 NM_181806	c.1634_1635insACTA c.2789_2790insACTA c.2630_2631insACTA c.3089_3090insACTA	p.Y545_N546delinsX p.Y930_N931delinsX p.Y877_N878delinsX p.Y1030_N1031delinsX	-	2.472E-5	Ruzzo2019 G
AASDH	A47	chr4: 57221513-57221513	C	A	exonic		De novo	nonsynonymous SNV	NM_001286668 NM_001286669 NM_001286671 NM_001286672 NM_181806	c.G638T c.G479T c.G938T c.G938T c.G938T	p.R213L p.R160L p.R313L p.R313L p.R313L	21.6	-	Jiao2019 E
AASDH	1-0570-003	chr4: 57211984-57211984	G	A	intronic		De novo					-	-	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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