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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 BCKDHA:

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
ENSG00000248098	BCKDHA	1	0	77	ENSG00000248098	ENST00000269980	ENSP00000269980	branched chain keto acid dehydrogenase E1, alpha polypeptide [Source:HGNC Symbol;Acc:986]	19	41884215	41930910	1	q13.2	41903365	41930910	BCKDHA	BCKDHA-001	HGNC Symbol	HGNC transcript name	9	52.18	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	593	986	BCKDHA	NM_000709	27526

MSeqDR Master Exome Data Set M1: 259 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	41856784	G	A	ENST00000604424	ENSG00000248098	41884215	41930910	-	BCKDHA	1	-	c.27G>A	p.G9G	syn	rs111403414	0.02229	-	-	-	-	-	het	1
2	19	41856886	A	C	ENST00000604424	ENSG00000248098	41884215	41930910	-	BCKDHA	1	-	c.129A>C	p.T43T	syn	rs2241715	0.6286	-	-	-	-	-	hom	4
3	19	41884244	A	G	ENST00000595085	ENSG00000248098	41884215	41930910	ENSP00000471150	BCKDHA	1	-	c.30A>G	p.Q10Q	syn	rs80302685	0.011	G=1/A=8227;G=54/A=3716;G=55/A=11943	-	-	-	-	het	2
4	19	41884247	G	A	ENST00000595085	ENSG00000248098	41884215	41930910	ENSP00000471150	BCKDHA	1	-	c.33G>A	p.Q11Q	syn	NA	-	-	lod=15:259	-	-	-	het	1
5	19	41884327	T	C	ENST00000595085	ENSG00000248098	41884215	41930910	ENSP00000471150	BCKDHA	1	-	c.113T>C	p.I38T	non-syn	rs77399851	0.031	C=1/T=8263;C=199/T=3597;C=200/T=11860	lod=15:259	TOLERATED	NA	-	het	2
6	19	41884337	C	T	ENST00000595085	ENSG00000248098	41884215	41930910	ENSP00000471150	BCKDHA	1	-	c.123C>T	p.A41A	syn	rs73931469	0.0122	T=1/C=8245;T=43/C=3753;T=44/C=11998	-	-	-	-	het	3
7	19	41884389	G	C	ENST00000595085	ENSG00000248098	41884215	41930910	ENSP00000471150	BCKDHA	1	-	c.175G>C	p.A59P	non-syn	rs201356483	-	C=0/G=8264;C=4/G=3800;C=4/G=12064	-	DAMAGING	NA	-	het	1
8	19	41903421	A	T	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs12983789	0.31738	-	-	-	-	-	het	131
9	19	41903421	A	T	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs12983789	0.31738	-	-	-	-	-	hom	23
10	19	41903533	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
11	19	41903540	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs114191970	0.0324	-	-	-	-	-	het	7
12	19	41903573	A	-T	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs16980932	-	-	-	-	-	-	het	137
13	19	41903573	A	-T	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs16980932	-	-	-	-	-	-	hom	65
14	19	41903671	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs892044	0.5182	-	-	-	-	-	hom	135
15	19	41903671	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs892044	0.5182	-	-	-	-	-	het	190
16	19	41903675	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs892043	0.9422	-	lod=15:259	-	-	-	het	28
17	19	41903675	A	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs892043	0.9422	-	lod=15:259	-	-	-	hom	429
18	19	41903699	T	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs45500792	0.1122	G=1220/T=7380;G=174/T=4232;G=1394/T=11612	-	-	-	-	het	120
19	19	41903699	T	G	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	rs45500792	0.1122	G=1220/T=7380;G=174/T=4232;G=1394/T=11612	-	-	-	-	hom	12
20	19	41903729	C	T	ENST00000269980	ENSG00000248098	41884215	41930910	ENSP00000269980	BCKDHA	1	ODBA_HUMAN	-	-	5'_UTR	NA	-	-	lod=37:355	-	-	-	het	2

** 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**,
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Transcripts and variants in the surrounding BCKDHA 19:41884215..41930910 region Gbrowse