Variant Results

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Results for "HTATIP2"

Variant Events: 4

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
HTATIP2	Lim2017:4909	chr11: 20404729-20404729	C	T	exonic		De novo	nonsynonymous SNV	NM_001098522 NM_001098520 NM_001098521 NM_006410	c.C707T c.C809T c.C707T c.C707T	p.A236V p.A270V p.A236V p.A236V	12.81	2.503E-5	Lim2017 E
HTATIP2	5-0077-003	chr11: 20392084-20392089	CTCATT	C	intronic		De novo					-	-	Yuen2017 G
HTATIP2	13048.p1	chr11: 20404729-20404729	C	T	exonic		De novo	nonsynonymous SNV	NM_001098522 NM_001098520 NM_001098521 NM_006410	c.C707T c.C809T c.C707T c.C707T	p.A236V p.A270V p.A236V p.A236V	12.81	2.503E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Wilfert2021 G
HTATIP2	iHART2883	chr11: 20385892-20385892	G	T	exonic		Paternal	stopgain	NM_001098522 NM_001098523 NM_001098520 NM_001098521 NM_006410	c.G109T c.G109T c.G211T c.G109T c.G109T	p.E37X p.E37X p.E71X p.E37X p.E37X	37.0	1.0E-4	Ruzzo2019 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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