Variant Results

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Results for "SPATA7"

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
SPATA7	MSSNG00008-004	chr14: 88855940-88855940	C	T	intronic		De novo					-	-	Trost2022 G
SPATA7	5-0003-003	chr14: 88916281-88916281	T	C	intergenic		De novo					-	-	Yuen2017 G
SPATA7	AU2023302	chr14: 88885871-88885871	T	C	intronic		De novo					-	-	Yuen2017 G
SPATA7	SP0096276	chr14: 88904235-88904235	G	A	exonic		De novo	synonymous SNV	NM_001040428 NM_018418	c.G1173A c.G1269A	p.S391S p.S423S	3.007	2.512E-5	Fu2022 E Trost2022 G Zhou2022 GE
SPATA7	SP0045525	chr14: 88904704-88904704	A	G	exonic		De novo	nonsynonymous SNV	NM_001040428 NM_018418	c.A1642G c.A1738G	p.M548V p.M580V	0.338	8.315E-6	Fu2022 E Trost2022 G Zhou2022 GE
SPATA7	mAGRE1730	chr14: 88903921-88903926	CAAAAT	C	exonic		Paternal	frameshift deletion	NM_001040428 NM_018418	c.1100_1104del c.1196_1200del	p.Q367fs p.Q399fs	-	-	Cirnigliaro2023 G
SPATA7	G01-GEA-327_HI	chr14: 88883184-88883184	A	G	exonic		De novo	nonsynonymous SNV	NM_001040428 NM_018418	c.A272G c.A368G	p.Q91R p.Q123R	6.878	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SPATA7	SP0168894	chr14: 88904393-88904393	C	T	exonic		De novo	nonsynonymous SNV	NM_001040428 NM_018418	c.C1331T c.C1427T	p.S444L p.S476L	14.8	1.653E-5	Trost2022 G
SPATA7	iHART1730	chr14: 88903921-88903926	CAAAAT	C	exonic		Paternal	frameshift deletion	NM_001040428 NM_018418	c.1100_1104del c.1196_1200del	p.Q367fs p.Q399fs	-	-	Ruzzo2019 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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