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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 BRCA1:

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
ENSG00000012048	BRCA1	0	0	3860	ENSG00000012048	ENST00000467274		breast cancer 1, early onset [Source:HGNC Symbol;Acc:1100]	17	41196312	41277500	-1	q21.31	41243115	41277332	BRCA1	BRCA1-012	HGNC Symbol	HGNC transcript name	31	42.93	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	672	1100	BRCA1		27509

MSeqDR Master Exome Data Set M1: 1132 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	41196363	C	T	ENST00000309486	ENSG00000012048	41196312	41277500	ENSP00000310938	BRCA1	-1	-	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
2	17	41196363	C	T	ENST00000346315	ENSG00000012048	41196312	41277500	ENSP00000246907	BRCA1	-1	-	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
3	17	41196363	C	T	ENST00000351666	ENSG00000012048	41196312	41277500	ENSP00000338007	BRCA1	-1	-	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
4	17	41196363	C	T	ENST00000352993	ENSG00000012048	41196312	41277500	ENSP00000312236	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
5	17	41196363	C	T	ENST00000354071	ENSG00000012048	41196312	41277500	ENSP00000326002	BRCA1	-1	-	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
6	17	41196363	C	T	ENST00000357654	ENSG00000012048	41196312	41277500	ENSP00000350283	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs8176320	0.00903	-	lod=22:300	-	-	-	het	18
7	17	41196368	C	T	ENST00000309486	ENSG00000012048	41196312	41277500	ENSP00000310938	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
8	17	41196368	C	T	ENST00000309486	ENSG00000012048	41196312	41277500	ENSP00000310938	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
9	17	41196368	C	T	ENST00000346315	ENSG00000012048	41196312	41277500	ENSP00000246907	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
10	17	41196368	C	T	ENST00000346315	ENSG00000012048	41196312	41277500	ENSP00000246907	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
11	17	41196368	C	T	ENST00000351666	ENSG00000012048	41196312	41277500	ENSP00000338007	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
12	17	41196368	C	T	ENST00000351666	ENSG00000012048	41196312	41277500	ENSP00000338007	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
13	17	41196368	C	T	ENST00000352993	ENSG00000012048	41196312	41277500	ENSP00000312236	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
14	17	41196368	C	T	ENST00000352993	ENSG00000012048	41196312	41277500	ENSP00000312236	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
15	17	41196368	C	T	ENST00000354071	ENSG00000012048	41196312	41277500	ENSP00000326002	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
16	17	41196368	C	T	ENST00000354071	ENSG00000012048	41196312	41277500	ENSP00000326002	BRCA1	-1	-	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
17	17	41196368	C	T	ENST00000357654	ENSG00000012048	41196312	41277500	ENSP00000350283	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	het	1
18	17	41196368	C	T	ENST00000357654	ENSG00000012048	41196312	41277500	ENSP00000350283	BRCA1	-1	BRCA1_HUMAN	-	-	3'_UTR	rs184237074	0.0011	-	-	-	-	-	hom	1
19	17	41196375	T	G	ENST00000309486	ENSG00000012048	41196312	41277500	ENSP00000310938	BRCA1	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
20	17	41196375	T	G	ENST00000346315	ENSG00000012048	41196312	41277500	ENSP00000246907	BRCA1	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1

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Transcripts and variants in the surrounding BRCA1 17:41196312..41277500 region Gbrowse