Variant Results

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Results for "SERPINA1"

Variant Events: 7

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
SERPINA1	AU3368303	chr14: 94862960-94862960	G	C	intergenic		De novo					-	-	Yuen2017 G
SERPINA1	60-2027	chr14: 94867213-94867213	G	C	intergenic		De novo					-	-	Michaelson2012 G
SERPINA1	7-0104-003	chr14: 94893606-94893606	A	G	intergenic		De novo					-	-	Yuen2017 G
SERPINA1	iHART2782	chr14: 94844884-94844884	C	CG	exonic		Paternal	frameshift insertion	NM_000295 NM_001002235 NM_001127700 NM_001127702 NM_001127706 NM_001127707 NM_001002236 NM_001127701 NM_001127703 NM_001127704 NM_001127705	c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC c.1158dupC	p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs p.E387fs	-	4.947E-5	Ruzzo2019 G
SERPINA1	1-0862-003	chr14: 94875417-94875417	T	C	intergenic		De novo					-	-	Yuen2017 G
SERPINA1	5-0116-003	chr14: 94903180-94903180	C	T	intergenic		De novo					-	-	Yuen2017 G
SERPINA1	AU038703	chr14: 94898353-94898353	G	T	intergenic		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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