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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 FLCN:

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
ENSG00000154803	FLCN	0	0	101	ENSG00000154803	ENST00000285071	ENSP00000285071	folliculin [Source:HGNC Symbol;Acc:27310]	17	17115526	17140502	-1	p11.2	17115526	17140453	FLCN	FLCN-001	HGNC Symbol	HGNC transcript name	10	53.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	201163	27310	FLCN	NM_144997	27509

MSeqDR Master Exome Data Set M1: 222 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	17115556	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	17	17115566	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7218795	0.76881	-	-	-	-	-	het	281
3	17	17115566	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7218795	0.76881	-	-	-	-	-	hom	319
4	17	17115580	T	C	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	17	17115618	C	+A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	17	17115633	C	A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7218992	0.13208	-	-	-	-	-	hom	16
7	17	17115633	C	A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7218992	0.13208	-	-	-	-	-	het	126
8	17	17115789	T	-A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
9	17	17115789	T	-A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
10	17	17116013	T	C	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs141650706	0.0453	-	-	-	-	-	het	3
11	17	17116055	G	A	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7223831	0.0836	-	-	-	-	-	het	33
12	17	17116058	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	17	17116412	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs3803761	0.76	-	-	-	-	-	hom	314
14	17	17116412	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs3803761	0.76	-	-	-	-	-	het	286
15	17	17116442	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	17	17116527	A	G	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7224213	0.0365	-	-	-	-	-	het	21
17	17	17116544	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7224335	0.279	-	-	-	-	-	het	18
18	17	17116544	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs7224335	0.279	-	-	-	-	-	hom	1
19	17	17116576	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs12602675	0.0736	-	-	-	-	-	hom	1
20	17	17116576	C	T	ENST00000285071	ENSG00000154803	17115526	17140502	ENSP00000285071	FLCN	-1	FLCN_HUMAN	-	-	3'_UTR	rs12602675	0.0736	-	-	-	-	-	het	37

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FLCN 17:17115526..17140502 region Gbrowse