Variant Results

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Results for "TUBB4A"

Variant Events: 4

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
TUBB4A	SP0104400	chr19: 6495141-6495141	C	T	UTR3		De novo					-	-	Fu2022 E Trost2022 G
TUBB4A	SP0056990	chr19: 6495584-6495584	C	T	exonic		De novo	nonsynonymous SNV	NM_001289130 NM_001289131 NM_006087 NM_001289123 NM_001289127 NM_001289129	c.G710A c.G710A c.G926A c.G1079A c.G1061A c.G926A	p.R237H p.R237H p.R309H p.R360H p.R354H p.R309H	15.65	-	Fu2022 E Trost2022 G Zhou2022 GE
TUBB4A	SP0041935	chr19: 6502260-6502260	A	T	exonic		De novo	synonymous SNV	NM_001289123 NM_001289127	c.T117A c.T99A	p.R39R p.R33R	-	-	Fu2022 E Trost2022 G
TUBB4A	Mahjani2021:70	chr19: 6495953-6495953	G	C	exonic			nonsynonymous SNV	NM_001289130 NM_001289131 NM_006087 NM_001289123 NM_001289127 NM_001289129	c.C341G c.C341G c.C557G c.C710G c.C692G c.C557G	p.T114R p.T114R p.T186R p.T237R p.T231R p.T186R	15.56	-	Mahjani2021 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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