Variant Results

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Results for "ITPRIPL1"

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
ITPRIPL1	5-0148-003	chr2: 96998274-96998274	C	T	intergenic		De novo					-	-	Yuen2017 G
ITPRIPL1	iHART1894	chr2: 96993806-96993806	G	A	exonic		Maternal	stopgain	NM_178495 NM_001163523 NM_001163524 NM_001008949	c.G1461A c.G1413A c.G1413A c.G1437A	p.W487X p.W471X p.W471X p.W479X	38.0	2.0E-4	Ruzzo2019 G
ITPRIPL1	NDAR_INVLX621YHE_wes1	chr2: 96993806-96993806	G	A	exonic			stopgain	NM_178495 NM_001163523 NM_001163524 NM_001008949	c.G1461A c.G1413A c.G1413A c.G1437A	p.W487X p.W471X p.W471X p.W479X	38.0	2.0E-4	Doan2019 E
ITPRIPL1	iHART1891	chr2: 96993806-96993806	G	A	exonic		Maternal	stopgain	NM_178495 NM_001163523 NM_001163524 NM_001008949	c.G1461A c.G1413A c.G1413A c.G1437A	p.W487X p.W471X p.W471X p.W479X	38.0	2.0E-4	Ruzzo2019 G
ITPRIPL1	AU2863303	chr2: 96992508-96992508	C	T	exonic		De novo	stopgain	NM_178495 NM_001163523 NM_001163524 NM_001008949	c.C163T c.C115T c.C115T c.C139T	p.R55X p.R39X p.R39X p.R47X	37.0	8.237E-6	Yuen2017 G
ITPRIPL1	1-0339-003	chr2: 96991497-96991497	G	C	UTR5		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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