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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 B4GALT1:

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
ENSG00000086062	B4GALT1	1	0	2	ENSG00000086062	ENST00000379731	ENSP00000369055	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 [Source:HGNC Symbol;Acc:924]	9	33104080	33167354	-1	p21.1	33110635	33167354	B4GALT1	B4GALT1-001	HGNC Symbol	HGNC transcript name	3	47.1	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2683	924	B4GALT1	NM_001497	27518

MSeqDR Master Exome Data Set M1: 134 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	9	33104354	A	C	ENST00000535206	ENSG00000086062	33104080	33167354	ENSP00000440341	B4GALT1	-1	-	-	-	3'_UTR	rs1013215	0.45438	-	-	-	-	-	het	1
2	9	33104524	A	G	ENST00000535206	ENSG00000086062	33104080	33167354	ENSP00000440341	B4GALT1	-1	-	-	-	3'_UTR	rs10813946	0.24015	-	-	-	-	-	hom	1
3	9	33104540	C	T	ENST00000535206	ENSG00000086062	33104080	33167354	ENSP00000440341	B4GALT1	-1	-	-	-	3'_UTR	rs1013217	0.3852	-	-	-	-	-	het	2
4	9	33104540	C	T	ENST00000535206	ENSG00000086062	33104080	33167354	ENSP00000440341	B4GALT1	-1	-	-	-	3'_UTR	rs1013217	0.3852	-	-	-	-	-	hom	2
5	9	33104711	C	T	ENST00000535206	ENSG00000086062	33104080	33167354	ENSP00000440341	B4GALT1	-1	-	-	-	3'_UTR	rs117881792	0.01145	-	-	-	-	-	het	2
6	9	33110645	A	C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
7	9	33110666	G	A	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs190731618	-	-	lod=164:514	-	-	-	het	2
8	9	33110693	A	C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs1803716	0.0207	-	lod=164:514	-	-	-	het	20
9	9	33110693	A	C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs1803716	0.0207	-	lod=164:514	-	-	-	hom	3
10	9	33110723	G	A	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
11	9	33110839	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs10412	0.1185	-	-	-	-	-	het	66
12	9	33110839	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs10412	0.1185	-	-	-	-	-	hom	2
13	9	33110994	G	A	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs184223660	0.0034	-	-	-	-	-	het	5
14	9	33111047	A	+C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs140793406	-	-	-	-	-	-	hom	2
15	9	33111047	A	+C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs140793406	-	-	-	-	-	-	het	65
16	9	33111097	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	9	33111171	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs116375484	0.0239	-	-	-	-	-	het	4
18	9	33111183	G	C	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs74772022	0.0145	-	-	-	-	-	het	4
19	9	33111199	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs74995636	0.05019	-	lod=25:313	-	-	-	het	40
20	9	33111199	C	T	ENST00000379731	ENSG00000086062	33104080	33167354	ENSP00000369055	B4GALT1	-1	B4GT1_HUMAN	-	-	3'_UTR	rs74995636	0.05019	-	lod=25:313	-	-	-	hom	3

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Transcripts and variants in the surrounding B4GALT1 9:33104080..33167354 region Gbrowse