Variant Results

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Results for "ATP10D"

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
ATP10D	13616.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_020453 NM_020453	c.3001dupG c.3001dupG	p.T1000fs p.G1001fs	-	-	Dong2014 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Willsey2013 E
ATP10D	2-0045-003	chr4: 47496011-47496011	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
ATP10D	1-0346-004	chr4: 47556117-47556117	T	C	intronic		De novo					-	-	Yuen2017 G
ATP10D	SP0135020	chr4: 47514535-47514535	C	T	UTR5		De novo					-	-	Fu2022 E
ATP10D	SP0129967	chr4: 47556917-47556917	C	A	exonic		De novo	nonsynonymous SNV	NM_020453	c.C1810A	p.Q604K	17.96	-	Fu2022 E
ATP10D	SP0069861	chr4: 47571203-47571203	C	T	intronic		De novo					-	-	Fu2022 E
ATP10D	SSC08078	chr4: 47571000-47571000	T	TG	exonic		De novo	frameshift insertion	NM_020453	c.3001dupG	p.T1000fs	-	-	Fu2022 E
ATP10D	iHART2962	chr4: 47538723-47538725	CTA	C	exonic		Maternal	frameshift deletion	NM_020453	c.1165_1166del	p.Y389fs	-	3.0E-4	Ruzzo2019 G
ATP10D	iHART2948	chr4: 47538819-47538819	C	CT	exonic		Paternal	frameshift insertion	NM_020453	c.1260_1261insT	p.C420fs	-	8.434E-6	Ruzzo2019 G

Source Variant Information

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Paper Information

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Pubmed
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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