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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 ALG6:

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
ENSG00000088035	ALG6	1	0	18	ENSG00000088035	ENST00000371108	ENSP00000360149	ALG6, alpha-1,3-glucosyltransferase [Source:HGNC Symbol;Acc:23157]	1	63833261	63904233	1	p31.3	63833261	63904233	ALG6	ALG6-001	HGNC Symbol	HGNC transcript name	7	37.93	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	29929	23157	ALG6	NM_013339	27511

MSeqDR Master Exome Data Set M1: 154 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	1	63836446	C	A	ENST00000263440	ENSG00000088035	63833261	63904233	ENSP00000263440	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	het	2
2	1	63836446	C	A	ENST00000263440	ENSG00000088035	63833261	63904233	ENSP00000263440	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	hom	1
3	1	63836446	C	A	ENST00000371108	ENSG00000088035	63833261	63904233	ENSP00000360149	ALG6	1	ALG6_HUMAN	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	het	2
4	1	63836446	C	A	ENST00000371108	ENSG00000088035	63833261	63904233	ENSP00000360149	ALG6	1	ALG6_HUMAN	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	hom	1
5	1	63836446	C	A	ENST00000487136	ENSG00000088035	63833261	63904233	ENSP00000473328	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	het	2
6	1	63836446	C	A	ENST00000487136	ENSG00000088035	63833261	63904233	ENSP00000473328	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	hom	1
7	1	63836446	C	A	ENST00000603108	ENSG00000088035	63833261	63904233	ENSP00000473934	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	het	2
8	1	63836446	C	A	ENST00000603108	ENSG00000088035	63833261	63904233	ENSP00000473934	ALG6	1	-	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	hom	1
9	1	63836513	C	G	ENST00000263440	ENSG00000088035	63833261	63904233	ENSP00000263440	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	het	271
10	1	63836513	C	G	ENST00000263440	ENSG00000088035	63833261	63904233	ENSP00000263440	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	hom	45
11	1	63836513	C	G	ENST00000371108	ENSG00000088035	63833261	63904233	ENSP00000360149	ALG6	1	ALG6_HUMAN	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	het	271
12	1	63836513	C	G	ENST00000371108	ENSG00000088035	63833261	63904233	ENSP00000360149	ALG6	1	ALG6_HUMAN	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	hom	45
13	1	63836513	C	G	ENST00000487136	ENSG00000088035	63833261	63904233	ENSP00000473328	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	het	271
14	1	63836513	C	G	ENST00000487136	ENSG00000088035	63833261	63904233	ENSP00000473328	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	hom	45
15	1	63836513	C	G	ENST00000603108	ENSG00000088035	63833261	63904233	ENSP00000473934	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	het	271
16	1	63836513	C	G	ENST00000603108	ENSG00000088035	63833261	63904233	ENSP00000473934	ALG6	1	-	-	-	5'_UTR	rs34542411	0.19231	-	-	-	-	-	hom	45
17	1	63836528	T	G	ENST00000263440	ENSG00000088035	63833261	63904233	ENSP00000263440	ALG6	1	-	-	-	5'_UTR	rs116034504	0.0279	-	-	-	-	-	het	1
18	1	63836528	T	G	ENST00000371108	ENSG00000088035	63833261	63904233	ENSP00000360149	ALG6	1	ALG6_HUMAN	-	-	5'_UTR	rs116034504	0.0279	-	-	-	-	-	het	1
19	1	63836528	T	G	ENST00000487136	ENSG00000088035	63833261	63904233	ENSP00000473328	ALG6	1	-	-	-	5'_UTR	rs116034504	0.0279	-	-	-	-	-	het	1
20	1	63836528	T	G	ENST00000603108	ENSG00000088035	63833261	63904233	ENSP00000473934	ALG6	1	-	-	-	5'_UTR	rs116034504	0.0279	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ALG6 1:63833261..63904233 region Gbrowse