Variant Results

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Results for "MPRIP"

Variant Events: 10

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
MPRIP	SP0060274	chr17: 17067897-17067898	GC	G	intronic		De novo					-	-	Fu2022 E
MPRIP	SP0117915	chr17: 17050624-17050624	C	A	intronic		De novo					-	8.24E-6	Fu2022 E
MPRIP	74-0481	chr17: 17050657-17050657	G	A	exonic		Inherited	nonsynonymous SNV	NM_015134 NM_201274	c.G1231A c.G1231A	p.A411T p.A411T	9.003	1.648E-5	Patowary2019 E
MPRIP	SSC06920	chr17: 17039561-17039561	C	CCAGCAGCAG	exonic		De novo	nonframeshift insertion	NM_015134 NM_201274	c.533_534insCAGCAGCAG c.533_534insCAGCAGCAG	p.T178delinsTSSS p.T178delinsTSSS	-	-	Fu2022 E
MPRIP	SP0130990	chr17: 17071088-17071088	C	G	intronic		De novo					13.22	-	Fu2022 E
MPRIP	1-0366-003	chr17: 17083924-17083924	G	A	exonic		De novo	nonsynonymous SNV	NM_201274	c.G3049A	p.V1017I	19.54	1.647E-5	Yuen2015 G
MPRIP	SP0124842	chr17: 17046108-17046108	A	C	intronic		De novo					-	-	Fu2022 E
MPRIP	AU2123301	chr17: 17101086-17101086	A	G	intergenic		De novo					-	-	Yuen2017 G
MPRIP	AU3912301	chr17: 17066172-17066172	G	A	intronic		De novo					-	-	Yuen2017 G
MPRIP	7-0023-003	chr17: 17047910-17047910	G	A	intronic		De novo					-	-	Yuen2017 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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