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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 GALNS:

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
ENSG00000141012	GALNS	0	0	58	ENSG00000141012	ENST00000268695	ENSP00000268695	galactosamine (N-acetyl)-6-sulfate sulfatase [Source:HGNC Symbol;Acc:4122]	16	88880142	88923378	-1	q24.3	88880142	88923374	GALNS	GALNS-001	HGNC Symbol	HGNC transcript name	14	60.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2588	4122	GALNS	NM_000512	27514

MSeqDR Master Exome Data Set M1: 509 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	16	88880146	G	C	ENST00000268695	ENSG00000141012	88880142	88923378	ENSP00000268695	GALNS	-1	GALNS_HUMAN	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	hom	62
2	16	88880146	G	C	ENST00000268695	ENSG00000141012	88880142	88923378	ENSP00000268695	GALNS	-1	GALNS_HUMAN	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	het	230
3	16	88880146	G	C	ENST00000542788	ENSG00000141012	88880142	88923378	ENSP00000438197	GALNS	-1	-	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	hom	62
4	16	88880146	G	C	ENST00000542788	ENSG00000141012	88880142	88923378	ENSP00000438197	GALNS	-1	-	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	het	230
5	16	88880146	G	C	ENST00000562593	ENSG00000141012	88880142	88923378	-	GALNS	-1	-	c.5679C>G	p.S1893R	non-syn	rs77936719	0.4174	-	-	-	-	-	hom	62
6	16	88880146	G	C	ENST00000562593	ENSG00000141012	88880142	88923378	-	GALNS	-1	-	c.5679C>G	p.S1893R	non-syn	rs77936719	0.4174	-	-	-	-	-	het	230
7	16	88880146	G	C	ENST00000567525	ENSG00000141012	88880142	88923378	ENSP00000454484	GALNS	-1	-	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	hom	62
8	16	88880146	G	C	ENST00000567525	ENSG00000141012	88880142	88923378	ENSP00000454484	GALNS	-1	-	-	-	3'_UTR	rs77936719	0.4174	-	-	-	-	-	het	230
9	16	88880164	C	T	ENST00000268695	ENSG00000141012	88880142	88923378	ENSP00000268695	GALNS	-1	GALNS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	16	88880164	C	T	ENST00000542788	ENSG00000141012	88880142	88923378	ENSP00000438197	GALNS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	16	88880164	C	T	ENST00000562593	ENSG00000141012	88880142	88923378	-	GALNS	-1	-	c.5661G>A	p.Q1887Q	syn	NA	-	-	-	-	-	-	het	1
12	16	88880164	C	T	ENST00000567525	ENSG00000141012	88880142	88923378	ENSP00000454484	GALNS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	16	88880195	T	C	ENST00000268695	ENSG00000141012	88880142	88923378	ENSP00000268695	GALNS	-1	GALNS_HUMAN	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	het	243
14	16	88880195	T	C	ENST00000268695	ENSG00000141012	88880142	88923378	ENSP00000268695	GALNS	-1	GALNS_HUMAN	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	hom	62
15	16	88880195	T	C	ENST00000542788	ENSG00000141012	88880142	88923378	ENSP00000438197	GALNS	-1	-	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	het	243
16	16	88880195	T	C	ENST00000542788	ENSG00000141012	88880142	88923378	ENSP00000438197	GALNS	-1	-	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	hom	62
17	16	88880195	T	C	ENST00000562593	ENSG00000141012	88880142	88923378	-	GALNS	-1	-	c.5630A>G	p.N1877S	non-syn	rs1135366	0.4188	-	-	-	-	-	het	243
18	16	88880195	T	C	ENST00000562593	ENSG00000141012	88880142	88923378	-	GALNS	-1	-	c.5630A>G	p.N1877S	non-syn	rs1135366	0.4188	-	-	-	-	-	hom	62
19	16	88880195	T	C	ENST00000567525	ENSG00000141012	88880142	88923378	ENSP00000454484	GALNS	-1	-	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	het	243
20	16	88880195	T	C	ENST00000567525	ENSG00000141012	88880142	88923378	ENSP00000454484	GALNS	-1	-	-	-	3'_UTR	rs1135366	0.4188	-	-	-	-	-	hom	62

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GALNS 16:88880142..88923378 region Gbrowse