Variant Results

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Results for "TIFA"

Variant Events: 7

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
TIFA	37102	chr4: 113199493-113199493	T	G	exonic		De novo	nonsynonymous SNV	NM_052864	c.A80C	p.Q27P	8.074	-	Trost2022 G
TIFA	2-1192-003	chr4: 113204711-113204720	AGAAAAACAG	A	intronic		De novo					-	-	Trost2022 G
TIFA	5-0077-004	chr4: 113199677-113199679	GAT	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TIFA	200675492_1082035067	chr4: 113199374-113199374	G	A	exonic		De novo	stopgain	NM_052864	c.C199T	p.R67X	38.0	8.309E-6	Fu2022 E
TIFA	14648.p1	chr4: 113199493-113199493	T	G	exonic		De novo	nonsynonymous SNV	NM_052864	c.A80C	p.Q27P	8.074	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
TIFA	Chen2017:65	chr4: 113199374-113199374	G	A	exonic		De novo	stopgain	NM_052864	c.C199T	p.R67X	38.0	8.309E-6	Chen2017 E
TIFA	200675492@1082035067	chr4: 113199374-113199374	G	A	exonic		De novo	stopgain	NM_052864	c.C199T	p.R67X	38.0	8.309E-6	Satterstrom2020 E Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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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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