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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 NAGA:

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
ENSG00000198951	NAGA	0	0	10	ENSG00000198951	ENST00000396398	ENSP00000379680	N-acetylgalactosaminidase, alpha- [Source:HGNC Symbol;Acc:7631]	22	42454358	42466846	-1	q13.2	42454358	42466834	NAGA	NAGA-002	HGNC Symbol	HGNC transcript name	3	53.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4668	7631	NAGA	NM_000262	27510

MSeqDR Master Exome Data Set M1: 101 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	22	42454469	G	A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs80313011	0.0384	-	-	-	-	-	het	5
2	22	42454493	G	-AA	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs71672062	-	-	-	-	-	-	hom	1
3	22	42454493	G	-AA	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs71672062	-	-	-	-	-	-	het	20
4	22	42454493	G	-A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs10713176	-	-	-	-	-	-	het	107
5	22	42454493	G	-A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs10713176	-	-	-	-	-	-	hom	551
6	22	42454587	G	A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs11703233	0.01173	-	-	-	-	-	het	33
7	22	42454627	G	A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	22	42454660	A	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs147876229	0.0028	-	-	-	-	-	het	1
9	22	42454728	G	A	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
10	22	42454950	A	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs1063392	0.7213	-	-	-	-	-	het	329
11	22	42454950	A	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs1063392	0.7213	-	-	-	-	-	hom	156
12	22	42454972	A	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs185586436	0.0009	-	-	-	-	-	het	7
13	22	42455033	A	C	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	22	42455180	A	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs117826003	0.01789	-	-	-	-	-	het	13
15	22	42455248	C	T	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs62238588	0.07565	-	-	-	-	-	het	88
16	22	42455248	C	T	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	rs62238588	0.07565	-	-	-	-	-	hom	4
17	22	42455301	C	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	22	42455330	C	G	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	22	42455520	A	C	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	22	42455614	C	T	ENST00000396398	ENSG00000198951	42454358	42466846	ENSP00000379680	NAGA	-1	NAGAB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding NAGA 22:42454358..42466846 region Gbrowse