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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 LRRK2:

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
ENSG00000188906	LRRK2	1	0	131	ENSG00000188906	ENST00000416796	ENSP00000398726	leucine-rich repeat kinase 2 [Source:HGNC Symbol;Acc:18618]	12	40590546	40763087	1	q12	40590546	40677754	LRRK2	LRRK2-001	HGNC Symbol	HGNC transcript name	7	35.24	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	120892	18618	LRRK2		27519

MSeqDR Master Exome Data Set M1: 418 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	12	40590585	G	A	ENST00000416796	ENSG00000188906	40590546	40763087	ENSP00000398726	LRRK2	1	-	-	-	+10bp 5'_splice_site	rs147922178	0.00826	-	-	-	-	-	het	4
2	12	40618958	T	G	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	c.25T>G	p.C9G	non-syn	rs200688492	-	-	-	TOLERATED	P	-	het	1
3	12	40618958	T	G	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	c.25T>G	p.C9G	non-syn	rs200688492	-	-	-	TOLERATED	P	-	het	1
4	12	40618992	T	-AGTC	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	c.60_63del	p.I20NA	non-syn	NA	-	-	lod=172:519	-	-	-	het	2
5	12	40618992	T	-AGTC	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	c.60_63del	p.I20NA	non-syn	NA	-	-	lod=172:519	-	-	-	het	2
6	12	40619082	G	A	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	c.149G>A	p.R50H	non-syn	rs2256408	0.99908	A=8598/G=2;A=3959/G=447;A=12557/G=449	lod=26:317	TOLERATED	B	-	het	9
7	12	40619082	G	A	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	c.149G>A	p.R50H	non-syn	rs2256408	0.99908	A=8598/G=2;A=3959/G=447;A=12557/G=449	lod=26:317	TOLERATED	B	-	hom	1080
8	12	40619082	G	A	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	c.149G>A	p.R50H	non-syn	rs2256408	0.99908	A=8598/G=2;A=3959/G=447;A=12557/G=449	lod=26:317	TOLERATED	B	-	het	9
9	12	40619082	G	A	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	c.149G>A	p.R50H	non-syn	rs2256408	0.99908	A=8598/G=2;A=3959/G=447;A=12557/G=449	lod=26:317	TOLERATED	B	-	hom	1080
10	12	40619101	A	G	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	-	-	+17bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
11	12	40619101	A	G	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	-	-	+17bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
12	12	40619423	G	C	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	c.218G>C	p.R73T	non-syn	NA	-	-	lod=41:366	DAMAGING	P	-	het	1
13	12	40619423	G	C	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	c.218G>C	p.R73T	non-syn	NA	-	-	lod=41:366	DAMAGING	P	-	het	1
14	12	40619423	G	C	ENST00000416796	ENSG00000188906	40590546	40763087	ENSP00000398726	LRRK2	1	-	c.5G>C	p.R2T	non-syn	NA	-	-	lod=41:366	DAMAGING	P	-	het	1
15	12	40619423	G	C	ENST00000474202	ENSG00000188906	40590546	40763087	-	LRRK2	1	-	c.27G>C	p.E9D	non-syn	NA	-	-	lod=41:366	DAMAGING	P	-	het	1
16	12	40619462	T	A	ENST00000298910	ENSG00000188906	40590546	40763087	ENSP00000298910	LRRK2	1	LRRK2_HUMAN	-	-	+20bp 5'_splice_site	rs201200707	-	-	-	-	-	-	het	1
17	12	40619462	T	A	ENST00000343742	ENSG00000188906	40590546	40763087	ENSP00000341930	LRRK2	1	-	-	-	+20bp 5'_splice_site	rs201200707	-	-	-	-	-	-	het	1
18	12	40619462	T	A	ENST00000416796	ENSG00000188906	40590546	40763087	ENSP00000398726	LRRK2	1	-	-	-	+20bp 5'_splice_site	rs201200707	-	-	-	-	-	-	het	1
19	12	40619462	T	A	ENST00000474202	ENSG00000188906	40590546	40763087	-	LRRK2	1	-	-	-	+20bp 5'_splice_site	rs201200707	-	-	-	-	-	-	het	1
20	12	40626230	T	C	ENST00000474202	ENSG00000188906	40590546	40763087	-	LRRK2	1	-	c.201T>C	p.I67I	syn	rs1352879	0.99353	C=8594/T=6;C=3548/T=858;C=12142/T=864	-	-	-	-	het	17

** 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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Transcripts and variants in the surrounding LRRK2 12:40590546..40763087 region Gbrowse