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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 MYO5B:

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
ENSG00000167306	MYO5B	0	0	7	ENSG00000167306	ENST00000285039	ENSP00000285039	myosin VB [Source:HGNC Symbol;Acc:7603]	18	47349183	47721463	-1	q21.1	47349183	47721463	MYO5B	MYO5B-001	HGNC Symbol	HGNC transcript name	8	44.5	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4645	7603	MYO5B	NM_001080467	27512

MSeqDR Master Exome Data Set M1: 355 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	18	47349768	A	C	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs73959716	-	-	-	-	-	-	het	1
2	18	47350832	A	T	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs79509391	-	-	-	-	-	-	het	1
3	18	47350848	G	C	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs75305404	-	-	-	-	-	-	het	1
4	18	47350866	A	G	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs75032645	-	-	-	-	-	-	het	1
5	18	47350876	G	A	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs78555149	-	-	-	-	-	-	het	1
6	18	47352134	A	G	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs12457962	0.2687	-	-	-	-	-	het	1
7	18	47352289	A	G	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	18	47352665	C	+A	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	NA	-	-	lod=32:340	-	-	-	het	9
9	18	47352665	C	+A	ENST00000324581	ENSG00000167306	47349183	47721463	ENSP00000315531	MYO5B	-1	-	-	-	3'_UTR	NA	-	-	lod=32:340	-	-	-	het	9
10	18	47352665	C	+A	ENST00000592688	ENSG00000167306	47349183	47721463	ENSP00000466368	MYO5B	-1	-	-	-	3'_UTR	NA	-	-	lod=32:340	-	-	-	het	9
11	18	47352665	C	+A	ENST00000592779	ENSG00000167306	47349183	47721463	ENSP00000464776	MYO5B	-1	-	-	-	3'_UTR	NA	-	-	lod=32:340	-	-	-	het	9
12	18	47352677	A	C	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs3208550	-	-	-	-	-	-	het	2
13	18	47352677	A	C	ENST00000324581	ENSG00000167306	47349183	47721463	ENSP00000315531	MYO5B	-1	-	-	-	3'_UTR	rs3208550	-	-	-	-	-	-	het	2
14	18	47352677	A	C	ENST00000592688	ENSG00000167306	47349183	47721463	ENSP00000466368	MYO5B	-1	-	-	-	3'_UTR	rs3208550	-	-	-	-	-	-	het	2
15	18	47352677	A	C	ENST00000592779	ENSG00000167306	47349183	47721463	ENSP00000464776	MYO5B	-1	-	-	-	3'_UTR	rs3208550	-	-	-	-	-	-	het	2
16	18	47352731	C	-T	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs34922262	-	-	-	-	-	-	het	100
17	18	47352731	C	-T	ENST00000285039	ENSG00000167306	47349183	47721463	ENSP00000285039	MYO5B	-1	MYO5B_HUMAN	-	-	3'_UTR	rs34922262	-	-	-	-	-	-	hom	9
18	18	47352731	C	-T	ENST00000324581	ENSG00000167306	47349183	47721463	ENSP00000315531	MYO5B	-1	-	-	-	3'_UTR	rs34922262	-	-	-	-	-	-	het	100
19	18	47352731	C	-T	ENST00000324581	ENSG00000167306	47349183	47721463	ENSP00000315531	MYO5B	-1	-	-	-	3'_UTR	rs34922262	-	-	-	-	-	-	hom	9
20	18	47352731	C	-T	ENST00000592688	ENSG00000167306	47349183	47721463	ENSP00000466368	MYO5B	-1	-	-	-	3'_UTR	rs34922262	-	-	-	-	-	-	het	100

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding MYO5B 18:47349183..47721463 region Gbrowse