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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term TUBB4A:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000104833	TUBB4A	0	0	12	ENSG00000104833	ENST00000264071	ENSP00000264071	tubulin, beta 4A class IVa [Source:HGNC Symbol;Acc:20774]	19	6494330	6502859	-1	p13.3	6494330	6502595	TUBB4A	TUBB4A-001	HGNC Symbol	HGNC transcript name	14	56.05	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10382	20774	TUBB4A		27526

MSeqDR Master Exome Data Set M1: 125 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	19	6494502	T	C	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs1053377	0.5864	-	-	-	-	-	hom	2
2	19	6494502	T	C	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs1053377	0.5864	-	-	-	-	-	hom	2
3	19	6494915	C	G	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs3099129	0.56863	-	-	-	-	-	het	7
4	19	6494915	C	G	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs3099129	0.56863	-	-	-	-	-	het	7
5	19	6495064	C	G	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs446199	0.751	-	-	-	-	-	hom	203
6	19	6495064	C	G	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs446199	0.751	-	-	-	-	-	het	74
7	19	6495064	C	G	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs446199	0.751	-	-	-	-	-	hom	203
8	19	6495064	C	G	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs446199	0.751	-	-	-	-	-	het	74
9	19	6495079	G	C	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs449824	0.1355	-	-	-	-	-	het	30
10	19	6495079	G	C	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs449824	0.1355	-	-	-	-	-	hom	1
11	19	6495079	G	C	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs449824	0.1355	-	-	-	-	-	het	30
12	19	6495079	G	C	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs449824	0.1355	-	-	-	-	-	hom	1
13	19	6495122	C	T	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs113953942	0.0359	-	-	-	-	-	het	4
14	19	6495122	C	T	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	-	-	3'_UTR	rs113953942	0.0359	-	-	-	-	-	het	4
15	19	6495221	G	T	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	c.1289C>A	p.A430D	non-syn	NA	-	-	lod=2876:820	DAMAGING	NA	-	het	1
16	19	6495221	G	T	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	c.1289C>A	p.A430D	non-syn	NA	-	-	lod=2876:820	DAMAGING	NA	-	het	1
17	19	6495223	C	T	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	c.1287G>A	p.T429T	syn	rs61731566	0.0159	T=228/C=8372;T=25/C=4381;T=253/C=12753	lod=2876:820	-	-	-	het	19
18	19	6495223	C	T	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	c.1287G>A	p.T429T	syn	rs61731566	0.0159	T=228/C=8372;T=25/C=4381;T=253/C=12753	lod=2876:820	-	-	-	het	19
19	19	6495415	C	T	ENST00000264071	ENSG00000104833	6494330	6502859	ENSP00000264071	TUBB4A	-1	TBB4A_HUMAN	c.1095G>A	p.A365A	syn	rs148507956	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=2876:820	-	-	-	het	1
20	19	6495415	C	T	ENST00000540257	ENSG00000104833	6494330	6502859	ENSP00000443590	TUBB4A	-1	TBB4A_HUMAN	c.1095G>A	p.A365A	syn	rs148507956	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=2876:820	-	-	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding TUBB4A 19:6494330..6502859 region Gbrowse