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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 CLN5:

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
ENSG00000102805	CLN5	1	0	87	ENSG00000102805	ENST00000377453	ENSP00000366673	ceroid-lipofuscinosis, neuronal 5 [Source:HGNC Symbol;Acc:2076]	13	77564795	77576652	1	q22.3	77564795	77576652	CLN5	CLN5-001	HGNC Symbol	HGNC transcript name	2	41.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1203	2076	CLN5	NM_006493	27513

MSeqDR Master Exome Data Set M1: 94 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	13	77564859	A	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	13	77565016	A	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs76199787	0.0044	-	-	-	-	-	het	6
3	13	77565068	G	A	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	13	77565134	C	T	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs74096165	0.1282	-	-	-	-	-	het	9
5	13	77565134	C	T	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs74096165	0.1282	-	-	-	-	-	hom	1
6	13	77565139	A	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573967	0.1141	-	-	-	-	-	het	68
7	13	77565139	A	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573967	0.1141	-	-	-	-	-	hom	2
8	13	77565147	A	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
9	13	77565233	C	T	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	13	77565234	G	A	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	13	77565259	G	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573968	0.1228	-	-	-	-	-	het	67
12	13	77565259	G	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573968	0.1228	-	-	-	-	-	hom	2
13	13	77565308	A	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573969	0.1266	-	-	-	-	-	het	68
14	13	77565308	A	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573969	0.1266	-	-	-	-	-	hom	2
15	13	77565389	C	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	13	77565408	A	G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs78695290	0.012	-	-	-	-	-	het	2
17	13	77565457	G	C	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs9573970	0.0416	-	-	-	-	-	het	9
18	13	77565483	C	T	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs186006713	0.00635	-	-	-	-	-	het	5
19	13	77565585	A	-G	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs58848360	-	-	-	-	-	-	het	3
20	13	77565585	A	-GG	ENST00000377453	ENSG00000102805	77564795	77576652	ENSP00000366673	CLN5	1	CLN5_HUMAN	-	-	5'_UTR	rs139435803	-	-	-	-	-	-	het	311

** 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 CLN5 13:77564795..77576652 region Gbrowse