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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 COL1A1:

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
ENSG00000108821	COL1A1	0	0	112	ENSG00000108821	ENST00000225964	ENSP00000225964	collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]	17	48260650	48278993	-1	q21.33	48260650	48278993	COL1A1	COL1A1-001	HGNC Symbol	HGNC transcript name	13	58.46	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1277	2197	COL1A1	NM_000088	27509

MSeqDR Master Exome Data Set M1: 248 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	17	48260701	A	G	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs183455168	0.0042	-	-	-	-	-	het	3
2	17	48260802	G	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs75179911	0.0265	-	-	-	-	-	het	32
3	17	48260805	T	C	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	17	48260824	C	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs79409705	0.0457	-	-	-	-	-	het	46
5	17	48260846	C	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs78804925	0.0524	-	-	-	-	-	het	33
6	17	48260936	C	A	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs112253292	0.03	-	-	-	-	-	het	22
7	17	48261117	A	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	17	48261140	T	A	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs183617064	0.0059	-	-	-	-	-	het	2
9	17	48261168	A	+GT	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs113506551	-	-	-	-	-	-	het	4
10	17	48261189	C	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs76133134	0.0133	-	-	-	-	-	het	1
11	17	48261366	G	A	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs909102	0.13473	-	-	-	-	-	het	177
12	17	48261366	G	A	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs909102	0.13473	-	-	-	-	-	hom	21
13	17	48261393	A	G	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs867184	0.3358	-	-	-	-	-	hom	14
14	17	48261393	A	G	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs867184	0.3358	-	-	-	-	-	het	146
15	17	48261464	T	C	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs188154578	0.0014	-	lod=751:677	-	-	-	het	2
16	17	48261630	C	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs73987442	0.0066	-	-	-	-	-	het	1
17	17	48261688	A	C	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs75713851	0.0594	-	-	-	-	-	het	7
18	17	48261698	G	C	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	rs149419718	0.0074	-	-	-	-	-	het	6
19	17	48261722	G	T	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	17	48261735	G	C	ENST00000225964	ENSG00000108821	48260650	48278993	ENSP00000225964	COL1A1	-1	CO1A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COL1A1 17:48260650..48278993 region Gbrowse