Variant Results

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Results for "TPTE2"

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
TPTE2	1-0121-003	chr13: 20006755-20006759	GAAAA	GAA	intronic		De novo					-	-	Yuen2017 G
TPTE2	14153.p1	chr13: 20138856-20138856	C	T	intergenic		De novo					-	-	Turner2016 G
TPTE2	2-1279-003	chr13: 20089806-20089806	C	T	intronic		De novo					-	-	Yuen2017 G
TPTE2	AU3911301	chr13: 20060333-20060333	G	A	intronic		De novo					-	-	Yuen2017 G
TPTE2	AU4412302	chr13: 20136563-20136563	A	C	intergenic		De novo					-	-	Yuen2017 G
TPTE2	74-0117	chr13: 20070302-20070302	G	A	intronic		Inherited					-	-	Michaelson2012 G
TPTE2	NP121	chr13: 20006639-20006639	T	A	exonic		Mosaic	nonsynonymous SNV	NM_001271850 NM_130785 NM_001141968 NM_199254	c.A209T c.A965T c.A863T c.A1196T	p.K70I p.K322I p.K288I p.K399I	12.74	0.0011	Lim2017 E
TPTE2	AU3076302	chr13: 20062410-20062410	G	A	intronic		De novo					-	-	Yuen2017 G
TPTE2	AU011704	chr13: 20070302-20070302	G	A	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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