Variant Results

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Results for "ALAS2"

Variant Events: 6

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
ALAS2	AU009904	chrX: 55091069-55091079	GTTTTTTTTTT	GTTTTTTTTT	intergenic		De novo					-	-	Yuen2017 G
ALAS2	1-0367-003	chrX: 55042386-55042393	GTCTCTCT	GTCTCT	intronic		De novo					-	-	Yuen2017 G
ALAS2	09C92779	chrX: 55046923-55046923	C	T	exonic		De novo	nonsynonymous SNV	NM_001037967 NM_000032 NM_001037968	c.G542A c.G653A c.G614A	p.R181H p.R218H p.R205H	17.63	7.0E-4	Satterstrom2020 E
ALAS2	SJD_49	chrX: 55039960-55039960	G	A	exonic		Maternal	nonsynonymous SNV	NM_001037967 NM_000032 NM_001037968	c.C1448T c.C1559T c.C1520T	p.P483L p.P520L p.P507L	23.3	0.0014	Toma2013 E
ALAS2	2-1168-003	chrX: 55042386-55042393	GTCTCTCT	GTCTCTCTCT	intronic		De novo					-	-	Yuen2017 G
ALAS2	AU3368302	chrX: 55042386-55042393	GTCTCTCT	GTCTCTCTCT	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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