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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 FTL:

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
ENSG00000087086	FTL	1	1	20	ENSG00000087086	ENST00000331825	ENSP00000366525	ferritin, light polypeptide [Source:HGNC Symbol;Acc:3999]	19	49468558	49470135	1	q13.33	49468558	49470135	FTL	FTL-001	HGNC Symbol	HGNC transcript name	1	55.96	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2512	3999	FTL	NM_000146	27526

MSeqDR Master Exome Data Set M1: 8 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	19	49468837	C	T	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.73C>T	p.L25L	syn	rs201971200	-	T=7/C=8593;T=0/C=4406;T=7/C=12999	lod=188:529	-	-	-	het	4
2	19	49469087	T	C	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.163T>C	p.L55L	syn	rs2230267	0.4828	C=4669/T=3931;C=2088/T=2318;C=6757/T=6249	-	-	-	-	het	416
3	19	49469087	T	C	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.163T>C	p.L55L	syn	rs2230267	0.4828	C=4669/T=3931;C=2088/T=2318;C=6757/T=6249	-	-	-	-	hom	291
4	19	49469607	C	T	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.319C>T	p.L107L	syn	NA	-	-	lod=62:410	-	-	-	het	1
5	19	49469930	G	A	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.466G>A	p.G156S	non-syn	rs151265703	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=25:313	TOLERATED	B	-	het	1
6	19	49469986	C	T	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	c.522C>T	p.H174H	syn	rs73046709	0.002	T=34/C=8566;T=2/C=4404;T=36/C=12970	lod=190:530	-	-	-	het	7
7	19	49470000	C	T	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	19	49470064	T	C	ENST00000331825	ENSG00000087086	49468558	49470135	ENSP00000366525	FTL	1	FRIL_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	16

** 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 FTL 19:49468558..49470135 region Gbrowse