Variant Results

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Results for "TUBA1A"

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
TUBA1A	SP0063454	chr12: 49578737-49578737	T	C	UTR3		De novo					-	-	Fu2022 E Trost2022 G
TUBA1A	Mahjani2021:81	chr12: 49579334-49579334	T	C	exonic			nonsynonymous SNV	NM_001270399 NM_001270400 NM_006009	c.A815G c.A710G c.A815G	p.Y272C p.Y237C p.Y272C	13.22	-	Mahjani2021 E
TUBA1A	SP0020142	chr12: 49579303-49579303	G	A	exonic		De novo	synonymous SNV	NM_001270399 NM_001270400 NM_006009	c.C846T c.C741T c.C846T	p.Y282Y p.Y247Y p.Y282Y	-	-	Fu2022 E Zhou2022 GE
TUBA1A	AU03503	chr12: 49579227-49579227	G	A	exonic		De novo	nonsynonymous SNV	NM_001270399 NM_001270400 NM_006009	c.C922T c.C817T c.C922T	p.R308C p.R273C p.R308C	15.23	-	Neale2012 E
TUBA1A	1-0253-005	chr12: 49585695-49585696	AC	A	intergenic		De novo					-	-	Yuen2017 G
TUBA1A	G01_GEA527HI	chr12: 49579487-49579487	C	T	exonic		De novo	nonsynonymous SNV	NM_001270399 NM_001270400 NM_006009	c.G662A c.G557A c.G662A	p.R221H p.R186H p.R221H	11.94	-	Fu2022 E
TUBA1A	11724.p1	chr12: 49579631-49579631	G	A	exonic		De novo	nonsynonymous SNV	NM_001270399 NM_001270400 NM_006009	c.C518T c.C413T c.C518T	p.P173L p.P138L p.P173L	15.57	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Zhou2022 GE
TUBA1A	SSC03213	chr12: 49579631-49579631	G	A	exonic		De novo	nonsynonymous SNV	NM_001270399 NM_001270400 NM_006009	c.C518T c.C413T c.C518T	p.P173L p.P138L p.P173L	15.57	-	Fu2022 E Lim2017 E Trost2022 G

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Paper Information

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