Variant Results

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Results for "MPHOSPH8"

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
MPHOSPH8	Uddin2014:11	chr13: 20235898-20235898	C	T	exonic		De novo	stopgain	NM_017520	c.C1852T	p.R618X	21.2	-	Uddin2014 E
MPHOSPH8	08C73486	chr13: 20235935-20235935	G	A	exonic		De novo	nonsynonymous SNV	NM_017520	c.G1889A	p.R630Q	15.2	8.263E-6	Fu2022 E Satterstrom2020 E
MPHOSPH8	AU3937301	chr13: 20251191-20251191	A	G	intergenic		De novo					-	-	Yuen2017 G
MPHOSPH8	1002717394-C	chr13: 20237334-20237334	C	T	intronic		De novo					-	-	Fu2022 E
MPHOSPH8	2-1107-003	chr13: 20208959-20208959	A	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
MPHOSPH8	2-1617-003	chr13: 20266585-20266585	T	C	intergenic		De novo					-	-	Yuen2017 G
MPHOSPH8	AU3858302	chr13: 20250558-20250558	A	G	intergenic		De novo					-	-	Yuen2017 G
MPHOSPH8	12224.p1	chr13: 20235898-20235898	C	T	exonic		De novo	stopgain	NM_017520	c.C1852T	p.R618X	21.2	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Willsey2013 E
MPHOSPH8	SSC04305	chr13: 20235898-20235898	C	T	exonic		De novo	stopgain	NM_017520	c.C1852T	p.R618X	21.2	-	Fu2022 E Lim2017 E

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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