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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 MLC1:

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
ENSG00000100427	MLC1	0	0	32	ENSG00000100427	ENST00000395876	ENSP00000379216	megalencephalic leukoencephalopathy with subcortical cysts 1 [Source:HGNC Symbol;Acc:17082]	22	50497820	50524331	-1	q13.33	50497820	50523783	MLC1	MLC1-002	HGNC Symbol	HGNC transcript name	9	55.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23209	17082	MLC1	NM_139202	27510

MSeqDR Master Exome Data Set M1: 393 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	22	50497881	A	G	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	22	50497881	A	G	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	22	50498030	G	+C	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	142
4	22	50498030	G	+C	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	19
5	22	50498030	G	+C	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	142
6	22	50498030	G	+C	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	19
7	22	50498049	G	C	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs41283487	0.0649	-	-	-	-	-	hom	6
8	22	50498049	G	C	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs41283487	0.0649	-	-	-	-	-	het	77
9	22	50498049	G	C	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs41283487	0.0649	-	-	-	-	-	hom	6
10	22	50498049	G	C	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs41283487	0.0649	-	-	-	-	-	het	77
11	22	50498114	T	C	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	22	50498114	T	C	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	22	50498176	C	T	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs11703598	0.1194	-	-	-	-	-	het	143
14	22	50498176	C	T	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs11703598	0.1194	-	-	-	-	-	hom	11
15	22	50498176	C	T	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs11703598	0.1194	-	-	-	-	-	het	143
16	22	50498176	C	T	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs11703598	0.1194	-	-	-	-	-	hom	11
17	22	50498231	G	A	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	22	50498231	G	A	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	22	50498239	C	G	ENST00000311597	ENSG00000100427	50497820	50524331	ENSP00000310375	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs80312581	0.0108	-	-	-	-	-	het	8
20	22	50498239	C	G	ENST00000395876	ENSG00000100427	50497820	50524331	ENSP00000379216	MLC1	-1	MLC1_HUMAN	-	-	3'_UTR	rs80312581	0.0108	-	-	-	-	-	het	8

** 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 MLC1 22:50497820..50524331 region Gbrowse