Variant Results

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Results for "SELP"

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
SELP	iHART1713	chr1: 169580892-169580892	C	CTT	exonic		Maternal	frameshift insertion	NM_003005	c.984_985insAA	p.A329fs	-	4.0E-4	Ruzzo2019 G
SELP	JASD_Fam0020	chr1: 169576253-169576253	C	G	exonic		De novo	nonsynonymous SNV	NM_003005	c.G1453C	p.V485L	9.269	-	Takata2018 E
SELP	iHART1710	chr1: 169580892-169580892	C	CTT	exonic		Maternal	frameshift insertion	NM_003005	c.984_985insAA	p.A329fs	-	4.0E-4	Ruzzo2019 G
SELP	2-1475-003	chr1: 169589281-169589281	G	A	intronic		De novo					-	-	Yuen2017 G
SELP	12680.p1	chr1: 169626192-169626192	G	A	intergenic		De novo					-	-	Turner2016 G
SELP	AU024608	chr1: 169579550-169579550	G	A	intronic		De novo					-	-	Yuen2017 G
SELP	AU3368302	chr1: 169630719-169630719	C	G	intergenic		De novo					-	-	Yuen2017 G
SELP	AU4237302	chr1: 169593656-169593656	G	C	intronic		De novo					-	-	Yuen2017 G
SELP	AU038204	chr1: 169623286-169623286	G	T	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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