Variant Results

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Results for "TKT"

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
TKT	Shi2013:2	chr3: 53263112-53263112	T	C	exonic		Inherited	nonsynonymous SNV	NM_001064 NM_001135055 NM_001258028	c.A1306G c.A1306G c.A1330G	p.M436V p.M436V p.M444V	21.7	0.0018	Shi2013 G
TKT	Shi2013:1	chr3: 53263112-53263112	T	C	exonic		Inherited	nonsynonymous SNV	NM_001064 NM_001135055 NM_001258028	c.A1306G c.A1306G c.A1330G	p.M436V p.M436V p.M444V	21.7	0.0018	Shi2013 G
TKT	359-09-111818	chr3: 53264571-53264571	C	T	exonic		De novo	nonsynonymous SNV	NM_001064 NM_001135055 NM_001258028	c.G1009A c.G1009A c.G1033A	p.A337T p.A337T p.A345T	36.0	8.258E-6	Fu2022 E Satterstrom2020 E
TKT	2-1731-003	chr3: 53259683-53259683	A	G	UTR3		De novo					-	-	Yuen2017 G
TKT	151138	chr3: 53262292-53262292	C	A	exonic		De novo	nonsynonymous SNV	NM_001064 NM_001135055 NM_001258028	c.G1479T c.G1479T c.G1503T	p.K493N p.K493N p.K501N	34.0	-	Fu2022 E Satterstrom2020 E
TKT	A000382	chr3: 53259851-53259851	G	A	exonic		De novo	nonsynonymous SNV	NM_001064 NM_001135055 NM_001258028	c.C1793T c.C1793T c.C1817T	p.P598L p.P598L p.P606L	20.6	1.648E-5	Fu2022 E
TKT	AU075210	chr3: 53273368-53273368	A	T	intronic		De novo					-	-	Yuen2017 G
TKT	1-0259-003	chr3: 53269977-53269977	A	G	intronic		De novo					-	-	Yuen2017 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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