Variant Results

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Results for "TFPT"

Variant Events: 6

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
TFPT	mAGRE4818	chr19: 54610433-54610434	AG	A	exonic		Paternal	frameshift deletion	NM_013342	c.685delC	p.L229fs	-	1.648E-5	Cirnigliaro2023 G
TFPT	Wang2023:760	chr19: 54618031-54618033	CTG	C	exonic		De novo	frameshift deletion	NM_013342	c.71_72del	p.S24fs	-	-	Wang2023 E
TFPT	MSSNG00256-004	chr19: 54615116-54615116	C	T	intronic		De novo					-	-	Trost2022 G
TFPT	Kim2020:B4	chr19: 54610400-54610404	TTGTC	T	exonic		De novo	frameshift deletion	NM_013342	c.715_718del	p.D239fs	-	-	Kim2020 E
TFPT	SP0139133	chr19: 54613493-54613493	C	A	exonic		De novo	synonymous SNV	NM_013342	c.G294T	p.R98R	-	-	Fu2022 E Trost2022 G Zhou2022 GE
TFPT	SP0040514	chr19: 54613578-54613579	CA	C	intronic		De novo					-	-	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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