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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 CLN6:

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
ENSG00000128973	CLN6	1	0	71	ENSG00000128973	ENST00000249806	ENSP00000249806	ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:HGNC Symbol;Acc:2077]	15	68499330	68549549	-1	q23	68499330	68522080	CLN6	CLN6-001	HGNC Symbol	HGNC transcript name	10	47.26	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54982	2077	CLN6	NM_017882	27521

MSeqDR Master Exome Data Set M1: 173 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	15	68499368	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	15	68499375	C	T	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs147362516	0.0061	-	-	-	-	-	het	1
3	15	68499454	A	+C	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs141489068	-	-	-	-	-	-	het	7
4	15	68499463	A	G	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs6494720	0.1522	-	-	-	-	-	het	15
5	15	68499544	C	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs114551417	0.0117	-	-	-	-	-	het	2
6	15	68499582	T	C	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	15	68499661	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs8142	0.5153	-	-	-	-	-	hom	191
8	15	68499661	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs8142	0.5153	-	-	-	-	-	het	337
9	15	68499753	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	15	68499788	T	C	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs8033190	0.1537	-	-	-	-	-	het	22
11	15	68499811	C	T	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs111879561	0.0218	-	-	-	-	-	het	7
12	15	68499823	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	15	68499832	G	C	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	rs144976448	0.0021	-	-	-	-	-	het	6
14	15	68500006	A	T	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	15	68500006	A	T	ENST00000565471	ENSG00000128973	68499330	68549549	ENSP00000457384	CLN6	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	15	68500008	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	15	68500008	G	A	ENST00000565471	ENSG00000128973	68499330	68549549	ENSP00000457384	CLN6	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	15	68500120	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	15	68500120	G	A	ENST00000565471	ENSG00000128973	68499330	68549549	ENSP00000457384	CLN6	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	15	68500194	G	A	ENST00000249806	ENSG00000128973	68499330	68549549	ENSP00000249806	CLN6	-1	CLN6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding CLN6 15:68499330..68549549 region Gbrowse