Variant Results

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Results for "THOP1"

Variant Events: 8

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
THOP1	AU3777302	chr19: 2799624-2799624	T	C	intronic		De novo					-	-	Yuen2017 G
THOP1	iHART2997	chr19: 2813141-2813141	T	TGA	exonic		Paternal	frameshift insertion	NM_003249	c.1937_1938insGA	p.L646fs	-	-	Ruzzo2019 G
THOP1	iHART2998	chr19: 2813141-2813141	T	TGA	exonic		Paternal	frameshift insertion	NM_003249	c.1937_1938insGA	p.L646fs	-	-	Ruzzo2019 G
THOP1	SP0010081	chr19: 2810714-2810714	C	T	exonic		De novo	synonymous SNV	NM_003249	c.C1719T	p.A573A	-	0.0059	Feliciano2019 E
THOP1	80001104634	chr19: 2810437-2810437	G	A	exonic		De novo	nonsynonymous SNV	NM_003249	c.G1591A	p.V531M	13.05	7.282E-5	Satterstrom2020 E
THOP1	1-0388-003	chr19: 2804590-2804590	C	T	intronic		De novo					-	-	Yuen2017 G
THOP1	iHART1483	chr19: 2811717-2811846	TGTCCTGAACAGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGC	T	exonic		Maternal	nonframeshift deletion	NM_003249	c.1894_1908del	p.632_636del	-	-	Ruzzo2019 G
THOP1	13616.p1	chr19: 2805120-2805120	C	T	exonic		De novo	synonymous SNV	NM_003249	c.C696T	p.H232H	-	4.401E-5	Satterstrom2020 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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