Variant Results

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Results for "TBX4"

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
TBX4	ASDFI_1501	chr17: 59557542-59557542	G	A	exonic		De novo	nonsynonymous SNV	NM_018488	c.G883A	p.G295S	18.54	3.301E-5	Fu2022 E Satterstrom2020 E
TBX4	A8	chr17: 59569377-59569377	G	A	intergenic		De novo					-	-	Wu2018 G
TBX4	AU3913302	chr17: 59640168-59640168	G	T	intergenic		De novo					-	-	Yuen2017 G
TBX4	AU1795302	chr17: 59625576-59625576	T	C	intergenic		De novo					-	-	Yuen2017 G
TBX4	AY081A	chr17: 59544933-59544933	C	T	exonic		De novo	nonsynonymous SNV	NM_018488	c.C464T	p.P155L	33.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
TBX4	09C81777	chr17: 59560616-59560616	C	T	exonic		De novo	synonymous SNV	NM_018488	c.C1377T	p.S459S	-	3.0E-4	DeRubeis2014 E Fu2022 E Kosmicki2017 E Neale2012 E Satterstrom2020 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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