Variant Results

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Results for "TPT1"

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
TPT1	11703.p1	Complex Event; expand row to view variants					De novo	splicing, frameshift insertion	NM_001286273 NM_003295	c.414_415insATGGTTTAGAAATGGAAAAATGT c.516_517insATGGTTTAGAAATGGAAAAATGT	p.X139delinsMVX p.X173delinsMVX	-	-	Ji2016 E Krumm2015 E
TPT1	DEASD_0215_001	chr13: 45912731-45912731	T	C	intronic		De novo					-	1.371E-5	Satterstrom2020 E Trost2022 G
TPT1	3097_18au	chr13: 45912835-45912835	T	C	exonic		De novo	nonsynonymous SNV	NM_001286273 NM_001286272 NM_003295	c.A374G c.A476G c.A476G	p.Y125C p.Y159C p.Y159C	13.34	-	Fu2022 E
TPT1	2-1749-003	chr13: 45910721-45910721	G	A	UTR3		De novo					-	-	Trost2022 G
TPT1	SP0049766	chr13: 45915126-45915126	G	C	intronic		De novo					-	-	Trost2022 G
TPT1	3-0508-000	chr13: 45906764-45906764	A	G	downstream		De novo					-	-	Trost2022 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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