Variant Results

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Results for "PPP1R1C"

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
PPP1R1C	1-0383-003	chr2: 182896800-182896800	A	G	intronic		De novo					-	-	Yuen2017 G
PPP1R1C	AU057404	chr2: 182958547-182958547	T	G	intronic		De novo					-	-	Yuen2017 G
PPP1R1C	AU047904	chr2: 182976167-182976167	T	A	intronic		De novo					-	-	Yuen2017 G
PPP1R1C	74-0352	chr2: 182998847-182998847	A	G	intergenic		De novo					-	-	Michaelson2012 G
PPP1R1C	AU2137304	chr2: 182998870-182998870	T	A	intergenic		De novo					-	-	Yuen2017 G
PPP1R1C	SP0025471	chr2: 182852608-182852608	A	C	exonic		De novo	nonsynonymous SNV	NM_001080545 NM_001261424 NM_001261425	c.A124C c.A145C c.A124C	p.N42H p.N49H p.N42H	20.1	-	Fu2022 E
PPP1R1C	AU4228301	chr2: 182999888-182999894	TTCTCTC	TTCTC	intergenic		De novo					-	-	Yuen2017 G
PPP1R1C	1-0142-005	chr2: 182861551-182861554	TAGA	T	intronic		De novo					-	-	Yuen2017 G
PPP1R1C	1-0433-004	chr2: 182886087-182886087	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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