Variant Results

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Results for "PITPNM3"

Variant Events: 10

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
PITPNM3	11120.p1	chr17: 6371601-6371601	T	C	exonic		De novo	nonsynonymous SNV	NM_001165966 NM_031220	c.A1726G c.A1834G	p.S576G p.S612G	10.79	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E
PITPNM3	AU074403	chr17: 6414508-6414508	C	T	intronic		De novo					-	-	Yuen2017 G
PITPNM3	6585	chr17: 6371601-6371601	T	C	exonic		De novo	nonsynonymous SNV	NM_001165966 NM_031220	c.A1726G c.A1834G	p.S576G p.S612G	10.79	-	Fu2022 E
PITPNM3	2-1278-003	chr17: 6369194-6369194	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
PITPNM3	AU2792302	chr17: 6376638-6376638	C	T	intronic		De novo					-	-	Yuen2017 G
PITPNM3	SP0040275	chr17: 6373603-6373603	C	T	exonic		De novo	nonsynonymous SNV	NM_001165966 NM_031220	c.G1642A c.G1750A	p.V548M p.V584M	22.2	3.648E-5	Fu2022 E
PITPNM3	1000478998840005-C	chr17: 6382011-6382011	C	T	exonic		De novo	synonymous SNV	NM_001165966 NM_031220	c.G525A c.G633A	p.Q175Q p.Q211Q	-	-	Fu2022 E
PITPNM3	SP0043389	chr17: 6371686-6371686	C	T	intronic		De novo					-	1.651E-5	Fu2022 E
PITPNM3	1-0339-003	chr17: 6374501-6374501	G	A	exonic		De novo	nonsynonymous SNV	NM_001165966 NM_031220	c.C1496T c.C1604T	p.A499V p.A535V	10.35	-	Yuen2015 G Yuen2017 G
PITPNM3	SP0046952	chr17: 6367493-6367493	A	G	exonic		De novo	nonsynonymous SNV	NM_001165966 NM_031220	c.T2045C c.T2153C	p.V682A p.V718A	22.0	-	Fu2022 E

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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