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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 ENSG00000138095:

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
ENSG00000138095	LRPPRC	1	172	71	ENSG00000138095	ENST00000260665	ENSP00000260665	leucine-rich pentatricopeptide repeat containing [Source:HGNC Symbol;Acc:15714]	2	44113647	44223144	-1	p21	44113647	44223144	LRPPRC	LRPPRC-001	HGNC Symbol	HGNC transcript name	9	37.13	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10128	15714	LRPPRC	NM_133259	27508

MSeqDR Master Exome Data Set M1: 232 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	2	44113690	A	+C	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	2	44113694	C	T	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs115795646	0.0045	-	-	-	-	-	het	1
3	2	44113698	G	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs7581308	0.0223	-	-	-	-	-	het	1
4	2	44113758	T	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs180886841	0.00186	-	-	-	-	-	het	3
5	2	44113778	A	G	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	2	44113828	C	T	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
7	2	44113844	C	T	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	2	44113867	G	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs147686285	0.0054	-	-	-	-	-	het	1
9	2	44113957	C	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs181941155	0.0014	-	-	-	-	-	het	2
10	2	44114074	G	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs1139250	0.6103	-	-	-	-	-	het	214
11	2	44114074	G	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs1139250	0.6103	-	-	-	-	-	hom	239
12	2	44114282	C	-AA	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
13	2	44114282	C	+AA	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	2	44114282	C	+A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	2	44114282	C	-A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs57494476	-	-	-	-	-	-	het	9
16	2	44114302	A	-AG	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	3
17	2	44114330	T	C	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	44114367	C	T	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	44114368	G	A	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs111381413	0.0286	-	-	-	-	-	het	1
20	2	44114396	C	G	ENST00000260665	ENSG00000138095	44113647	44223144	ENSP00000260665	LRPPRC	-1	LPPRC_HUMAN	-	-	3'_UTR	rs75002669	0.0145	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding LRPPRC 2:44113647..44223144 region Gbrowse