Variant Results

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Results for "THAP5"

Variant Events: 5

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
THAP5	13647.p1	chr7: 108204755-108204757	TAG	T	exonic		De novo	frameshift deletion	NM_001287601 NM_001130475 NM_001287598 NM_001287599 NM_182529	c.580_581del c.1066_1067del c.580_581del c.580_581del c.940_941del	p.L194fs p.L356fs p.L194fs p.L194fs p.L314fs	-	4.124E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
THAP5	SSC08551	chr7: 108204755-108204757	TAG	T	exonic		De novo	frameshift deletion	NM_001287601 NM_001130475 NM_001287598 NM_001287599 NM_182529	c.580_581del c.1066_1067del c.580_581del c.580_581del c.940_941del	p.L194fs p.L356fs p.L194fs p.L194fs p.L314fs	-	4.124E-5	Fu2022 E Trost2022 G
THAP5	SP0085402	chr7: 108205525-108205525	A	AT	exonic		De novo	frameshift insertion	NM_001130475 NM_182529	c.297dupA c.171dupA	p.S100fs p.S58fs	-	3.0E-4	Trost2022 G
THAP5	5-5209-003	chr7: 108206615-108206615	C	G	intronic		De novo					-	-	Trost2022 G
THAP5	SP0049299	chr7: 108210039-108210039	G	C	UTR5		De novo					-	4.868E-5	Fu2022 E Trost2022 G Trost2022 G

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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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