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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 ADAMTS17:

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
ENSG00000140470	ADAMTS17	0	0	5	ENSG00000140470	ENST00000268070	ENSP00000268070	ADAM metallopeptidase with thrombospondin type 1 motif, 17 [Source:HGNC Symbol;Acc:17109]	15	100511794	100882210	-1	q26.3	100511794	100882210	ADAMTS17	ADAMTS17-001	HGNC Symbol	HGNC transcript name	9	46.62	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	170691	17109	ADAMTS17	NM_139057	27521

MSeqDR Master Exome Data Set M1: 411 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	15	100511817	G	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	NA	-	-	lod=221:546	-	-	-	het	1
2	15	100511860	A	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs183457005	0.0027	-	-	-	-	-	het	2
3	15	100511885	C	T	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs116467016	0.0341	-	lod=31:336	-	-	-	het	1
4	15	100511906	C	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs13329612	0.1997	-	-	-	-	-	hom	2
5	15	100511906	C	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs13329612	0.1997	-	-	-	-	-	het	10
6	15	100511962	G	T	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs114391483	-	-	lod=63:412	-	-	-	het	2
7	15	100511978	C	-TGG	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	15	100511983	A	-ACACGTGCGTTAGTG	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	15	100511988	G	A	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs151153777	0.0085	-	-	-	-	-	het	1
10	15	100511991	C	-GTTAGTGACACGTGT	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	15	100512029	C	T	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs183671964	0.03	-	lod=115:476	-	-	-	het	2
12	15	100512047	A	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs10468183	0.42545	-	-	-	-	-	hom	141
13	15	100512047	A	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs10468183	0.42545	-	-	-	-	-	het	285
14	15	100512066	T	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs8041971	0.1525	-	-	-	-	-	het	10
15	15	100512079	A	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs8037666	0.42532	-	-	-	-	-	het	288
16	15	100512079	A	G	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs8037666	0.42532	-	-	-	-	-	hom	144
17	15	100512096	T	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs145561763	0.00272	-	-	-	-	-	het	2
18	15	100512128	G	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	15	100512253	G	A	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs8036076	0.025	-	-	-	-	-	het	5
20	15	100512255	G	C	ENST00000268070	ENSG00000140470	100511794	100882210	ENSP00000268070	ADAMTS17	-1	ATS17_HUMAN	-	-	3'_UTR	rs138578029	0.0229	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding ADAMTS17 15:100511794..100882210 region Gbrowse