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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 BCKDHB:

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
ENSG00000083123	BCKDHB	1	0	81	ENSG00000083123	ENST00000369760	ENSP00000358775	branched chain keto acid dehydrogenase E1, beta polypeptide [Source:HGNC Symbol;Acc:987]	6	80816364	81055987	1	q14.1	80816364	80879590	BCKDHB	BCKDHB-002	HGNC Symbol	HGNC transcript name	7	36.82	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	594	987	BCKDHB		27515

MSeqDR Master Exome Data Set M1: 196 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	6	80816440	G	T	ENST00000320393	ENSG00000083123	80816364	81055987	ENSP00000318351	BCKDHB	1	ODBB_HUMAN	c.30G>T	p.W10C	non-syn	NA	-	-	-	TOLERATED	NA	-	het	2
2	6	80816440	G	T	ENST00000356489	ENSG00000083123	80816364	81055987	ENSP00000348880	BCKDHB	1	ODBB_HUMAN	c.30G>T	p.W10C	non-syn	NA	-	-	-	TOLERATED	NA	-	het	2
3	6	80816440	G	T	ENST00000369760	ENSG00000083123	80816364	81055987	ENSP00000358775	BCKDHB	1	-	c.30G>T	p.W10C	non-syn	NA	-	-	-	TOLERATED	NA	-	het	2
4	6	80816440	G	T	ENST00000545529	ENSG00000083123	80816364	81055987	ENSP00000443564	BCKDHB	1	-	c.30G>T	p.W10C	non-syn	NA	-	-	-	TOLERATED	NA	-	het	2
5	6	80816520	A	C	ENST00000320393	ENSG00000083123	80816364	81055987	ENSP00000318351	BCKDHB	1	ODBB_HUMAN	c.110A>C	p.H37P	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
6	6	80816520	A	C	ENST00000356489	ENSG00000083123	80816364	81055987	ENSP00000348880	BCKDHB	1	ODBB_HUMAN	c.110A>C	p.H37P	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
7	6	80816520	A	C	ENST00000369760	ENSG00000083123	80816364	81055987	ENSP00000358775	BCKDHB	1	-	c.110A>C	p.H37P	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
8	6	80816520	A	C	ENST00000545529	ENSG00000083123	80816364	81055987	ENSP00000443564	BCKDHB	1	-	c.110A>C	p.H37P	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
9	6	80816532	C	T	ENST00000320393	ENSG00000083123	80816364	81055987	ENSP00000318351	BCKDHB	1	ODBB_HUMAN	c.122C>T	p.T41I	non-syn	rs35470366	0.0109	T=0/C=8424;T=33/C=4277;T=33/C=12701	-	DAMAGING	B	-	het	2
10	6	80816532	C	T	ENST00000356489	ENSG00000083123	80816364	81055987	ENSP00000348880	BCKDHB	1	ODBB_HUMAN	c.122C>T	p.T41I	non-syn	rs35470366	0.0109	T=0/C=8424;T=33/C=4277;T=33/C=12701	-	DAMAGING	B	-	het	2
11	6	80816532	C	T	ENST00000369760	ENSG00000083123	80816364	81055987	ENSP00000358775	BCKDHB	1	-	c.122C>T	p.T41I	non-syn	rs35470366	0.0109	T=0/C=8424;T=33/C=4277;T=33/C=12701	-	DAMAGING	B	-	het	2
12	6	80816532	C	T	ENST00000545529	ENSG00000083123	80816364	81055987	ENSP00000443564	BCKDHB	1	-	c.122C>T	p.T41I	non-syn	rs35470366	0.0109	T=0/C=8424;T=33/C=4277;T=33/C=12701	-	DAMAGING	B	-	het	2
13	6	80837058	A	G	ENST00000486968	ENSG00000083123	80816364	81055987	-	BCKDHB	1	-	c.73A>G	p.I25V	non-syn	rs2505930	0.63796	-	-	-	-	-	het	28
14	6	80837058	A	G	ENST00000486968	ENSG00000083123	80816364	81055987	-	BCKDHB	1	-	c.73A>G	p.I25V	non-syn	rs2505930	0.63796	-	-	-	-	-	hom	58
15	6	80837253	G	T	ENST00000320393	ENSG00000083123	80816364	81055987	ENSP00000318351	BCKDHB	1	ODBB_HUMAN	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	het	166
16	6	80837253	G	T	ENST00000320393	ENSG00000083123	80816364	81055987	ENSP00000318351	BCKDHB	1	ODBB_HUMAN	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	hom	237
17	6	80837253	G	T	ENST00000356489	ENSG00000083123	80816364	81055987	ENSP00000348880	BCKDHB	1	ODBB_HUMAN	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	het	166
18	6	80837253	G	T	ENST00000356489	ENSG00000083123	80816364	81055987	ENSP00000348880	BCKDHB	1	ODBB_HUMAN	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	hom	237
19	6	80837253	G	T	ENST00000369760	ENSG00000083123	80816364	81055987	ENSP00000358775	BCKDHB	1	-	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	het	166
20	6	80837253	G	T	ENST00000369760	ENSG00000083123	80816364	81055987	ENSP00000358775	BCKDHB	1	-	-	-	-11bp 3'_splice_site	rs9448894	-	-	-	-	-	-	hom	237

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding BCKDHB 6:80816364..81055987 region Gbrowse