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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 BBS7:

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
ENSG00000138686	BBS7	0	0	18	ENSG00000138686	ENST00000264499	ENSP00000264499	Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:18758]	4	122745595	122791652	-1	q27	122745595	122791652	BBS7	BBS7-001	HGNC Symbol	HGNC transcript name	6	35.63	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	55212	18758	BBS7	NM_176824	27524

MSeqDR Master Exome Data Set M1: 87 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	4	122745729	C	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs1507996	0.27947	-	-	-	-	-	het	234
2	4	122745729	C	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs1507996	0.27947	-	-	-	-	-	hom	30
3	4	122745758	A	+T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	4	122745813	C	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3217756	0.0446	-	-	-	-	-	het	10
5	4	122745971	A	-TAAC	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	4	122746068	T	A	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	4	122746172	A	G	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	4	122746172	A	G	ENST00000507814	ENSG00000138686	122745595	122791652	ENSP00000423250	BBS7	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	4	122746285	T	-C	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3217754	-	-	-	-	-	-	het	308
10	4	122746285	T	-C	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3217754	-	-	-	-	-	-	hom	95
11	4	122746285	T	-C	ENST00000507814	ENSG00000138686	122745595	122791652	ENSP00000423250	BBS7	-1	-	-	-	3'_UTR	rs3217754	-	-	-	-	-	-	het	308
12	4	122746285	T	-C	ENST00000507814	ENSG00000138686	122745595	122791652	ENSP00000423250	BBS7	-1	-	-	-	3'_UTR	rs3217754	-	-	-	-	-	-	hom	95
13	4	122746325	A	G	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3217753	0.32083	-	-	-	-	-	het	282
14	4	122746325	A	G	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3217753	0.32083	-	-	-	-	-	hom	55
15	4	122746325	A	G	ENST00000507814	ENSG00000138686	122745595	122791652	ENSP00000423250	BBS7	-1	-	-	-	3'_UTR	rs3217753	0.32083	-	-	-	-	-	het	282
16	4	122746325	A	G	ENST00000507814	ENSG00000138686	122745595	122791652	ENSP00000423250	BBS7	-1	-	-	-	3'_UTR	rs3217753	0.32083	-	-	-	-	-	hom	55
17	4	122746502	G	A	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	4	122746596	A	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3762840	0.38027	-	-	-	-	-	hom	96
19	4	122746596	A	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	rs3762840	0.38027	-	-	-	-	-	het	302
20	4	122746662	C	T	ENST00000264499	ENSG00000138686	122745595	122791652	ENSP00000264499	BBS7	-1	BBS7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding BBS7 4:122745595..122791652 region Gbrowse