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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 TBX15:

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
ENSG00000092607	TBX15	0	0	0	ENSG00000092607	ENST00000207157	ENSP00000207157	T-box 15 [Source:HGNC Symbol;Acc:11594]	1	119425669	119532179	-1	p12	119425669	119532179	TBX15	TBX15-001	HGNC Symbol	HGNC transcript name	3	41.12	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6913	11594	TBX15	NM_152380	27511

MSeqDR Master Exome Data Set M1: 132 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	1	119425830	G	C	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs41301299	0.0044	-	lod=1339:739	-	-	-	het	19
2	1	119425830	G	C	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs41301299	0.0044	-	lod=1339:739	-	-	-	het	19
3	1	119425830	G	C	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	rs41301299	0.0044	-	lod=1339:739	-	-	-	het	19
4	1	119425947	G	T	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs76084019	0.0299	-	lod=1339:739	-	-	-	het	3
5	1	119425947	G	T	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs76084019	0.0299	-	lod=1339:739	-	-	-	het	3
6	1	119425947	G	T	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	rs76084019	0.0299	-	lod=1339:739	-	-	-	het	3
7	1	119426106	A	T	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	119426106	A	T	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	119426106	A	T	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	1	119426358	T	C	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs116624511	0.0313	-	-	-	-	-	het	2
11	1	119426358	T	C	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs116624511	0.0313	-	-	-	-	-	het	2
12	1	119426358	T	C	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	rs116624511	0.0313	-	-	-	-	-	het	2
13	1	119426385	C	T	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs56957037	0.0862	-	-	-	-	-	het	8
14	1	119426385	C	T	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs56957037	0.0862	-	-	-	-	-	het	8
15	1	119426385	C	T	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	rs56957037	0.0862	-	-	-	-	-	het	8
16	1	119426457	G	A	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs57163384	0.0367	-	-	-	-	-	het	2
17	1	119426457	G	A	ENST00000369429	ENSG00000092607	119425669	119532179	ENSP00000358437	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs57163384	0.0367	-	-	-	-	-	het	2
18	1	119426457	G	A	ENST00000449873	ENSG00000092607	119425669	119532179	ENSP00000398625	TBX15	-1	-	-	-	3'_UTR	rs57163384	0.0367	-	-	-	-	-	het	2
19	1	119426466	G	A	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs56809525	0.1042	-	-	-	-	-	het	8
20	1	119426466	G	A	ENST00000207157	ENSG00000092607	119425669	119532179	ENSP00000207157	TBX15	-1	TBX15_HUMAN	-	-	3'_UTR	rs56809525	0.1042	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding TBX15 1:119425669..119532179 region Gbrowse