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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 ADAMTS2:

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
ENSG00000087116	ADAMTS2	0	0	9	ENSG00000087116	ENST00000251582	ENSP00000251582	ADAM metallopeptidase with thrombospondin type 1 motif, 2 [Source:HGNC Symbol;Acc:218]	5	178537852	178772431	-1	q35.3	178537852	178772431	ADAMTS2	ADAMTS2-001	HGNC Symbol	HGNC transcript name	5	53.87	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9509	218	ADAMTS2	NM_014244	27527

MSeqDR Master Exome Data Set M1: 210 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	5	178537916	A	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs1044209	0.23562	-	-	-	-	-	hom	17
2	5	178537917	C	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs1044205	0.2384	-	-	-	-	-	hom	21
3	5	178537950	C	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs60250623	0.0607	-	-	-	-	-	het	2
4	5	178538014	A	G	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs11740156	0.00396	-	-	-	-	-	het	2
5	5	178538015	C	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
6	5	178538032	A	C	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	5	178538043	C	G	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	5	178538081	C	G	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	5	178538273	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs188054405	0.00093	-	-	-	-	-	het	1
10	5	178538273	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs188054405	0.00093	-	-	-	-	-	hom	1
11	5	178538305	C	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	5	178538429	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs78886769	0.06066	-	-	-	-	-	het	56
13	5	178538429	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs78886769	0.06066	-	-	-	-	-	hom	2
14	5	178538435	C	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
15	5	178538436	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	5	178538472	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs3797615	0.3824	-	-	-	-	-	het	266
17	5	178538472	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs3797615	0.3824	-	-	-	-	-	hom	51
18	5	178538566	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	5	178538567	G	A	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs115104288	0.0111	-	-	-	-	-	het	2
20	5	178538622	C	T	ENST00000251582	ENSG00000087116	178537852	178772431	ENSP00000251582	ADAMTS2	-1	ATS2_HUMAN	-	-	3'_UTR	rs143484152	0.0011	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding ADAMTS2 5:178537852..178772431 region Gbrowse