Variant Results

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Results for "TTF2"

Variant Events: 10

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
TTF2	5069_202_child	chr1: 117632812-117632812	C	A	exonic		De novo	nonsynonymous SNV	NM_003594	c.C2478A	p.D826E	17.06	-	Neale2012 E
TTF2	7-0410-003	chr1: 117629625-117629625	C	T	intronic		De novo					-	-	Trost2022 G
TTF2	mAGRE5036	chr1: 117641486-117641486	C	T	exonic		Paternal	stopgain	NM_003594	c.C3301T	p.R1101X	42.0	8.238E-6	Cirnigliaro2023 G
TTF2	mAGRE5035	chr1: 117641486-117641486	C	T	exonic		Paternal	stopgain	NM_003594	c.C3301T	p.R1101X	42.0	8.238E-6	Cirnigliaro2023 G
TTF2	mAGRE1103	chr1: 117618917-117618917	G	A	splicing		Paternal	splicing				11.99	8.443E-6	Cirnigliaro2023 G
TTF2	NDAR_INVLA204TKP_wes1	chr1: 117644154-117644154	T	C	UTR3		De novo					-	-	Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
TTF2	Cukier2014:37232	chr1: 117633170-117633170	G	A	exonic		Unknown	nonsynonymous SNV	NM_003594	c.G2513A	p.R838H	19.67	0.0042	Cukier2014 E
TTF2	iHART1103	chr1: 117618917-117618917	G	A	splicing		Paternal	splicing				11.99	8.443E-6	Ruzzo2019 G
TTF2	SP0073780	chr1: 117624575-117624575	C	G	intronic		De novo					-	-	Fu2022 E Trost2022 G Zhou2022 GE
TTF2	09C98146	chr1: 117632812-117632812	C	A	exonic		De novo	nonsynonymous SNV	NM_003594	c.C2478A	p.D826E	17.06	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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Paper Information

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