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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 ENSG00000105928:

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
ENSG00000105928	DFNA5	0	0	33	ENSG00000105928	ENST00000342947	ENSP00000339587	deafness, autosomal dominant 5 [Source:HGNC Symbol;Acc:2810]	7	24737972	24809244	-1	p15.3	24737972	24797732	DFNA5	DFNA5-001	HGNC Symbol	HGNC transcript name	15	44.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1687	2810	DFNA5	NM_004403	27506

MSeqDR Master Exome Data Set M1: 371 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	7	24738118	G	A	ENST00000342947	ENSG00000105928	24737972	24809244	ENSP00000339587	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	het	66
2	7	24738118	G	A	ENST00000342947	ENSG00000105928	24737972	24809244	ENSP00000339587	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	hom	2
3	7	24738118	G	A	ENST00000409970	ENSG00000105928	24737972	24809244	ENSP00000387119	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	het	66
4	7	24738118	G	A	ENST00000409970	ENSG00000105928	24737972	24809244	ENSP00000387119	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	hom	2
5	7	24738118	G	A	ENST00000419307	ENSG00000105928	24737972	24809244	ENSP00000401332	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	het	66
6	7	24738118	G	A	ENST00000419307	ENSG00000105928	24737972	24809244	ENSP00000401332	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	hom	2
7	7	24738118	G	A	ENST00000479636	ENSG00000105928	24737972	24809244	-	DFNA5	-1	-	c.4039C>T	p.Q1347*	non-syn	rs6957782	0.1042	-	-	-	-	-	het	66
8	7	24738118	G	A	ENST00000479636	ENSG00000105928	24737972	24809244	-	DFNA5	-1	-	c.4039C>T	p.Q1347*	non-syn	rs6957782	0.1042	-	-	-	-	-	hom	2
9	7	24738118	G	A	ENST00000545231	ENSG00000105928	24737972	24809244	ENSP00000442661	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	het	66
10	7	24738118	G	A	ENST00000545231	ENSG00000105928	24737972	24809244	ENSP00000442661	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs6957782	0.1042	-	-	-	-	-	hom	2
11	7	24738139	A	-T	ENST00000342947	ENSG00000105928	24737972	24809244	ENSP00000339587	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs77276759	-	-	-	-	-	-	het	27
12	7	24738139	A	-T	ENST00000409970	ENSG00000105928	24737972	24809244	ENSP00000387119	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs77276759	-	-	-	-	-	-	het	27
13	7	24738139	A	-T	ENST00000419307	ENSG00000105928	24737972	24809244	ENSP00000401332	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs77276759	-	-	-	-	-	-	het	27
14	7	24738139	A	-T	ENST00000479636	ENSG00000105928	24737972	24809244	-	DFNA5	-1	-	c.4017_4017del	p.K1339NA	non-syn	rs77276759	-	-	-	-	-	-	het	27
15	7	24738139	A	-T	ENST00000545231	ENSG00000105928	24737972	24809244	ENSP00000442661	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs77276759	-	-	-	-	-	-	het	27
16	7	24738159	A	+TACTC	ENST00000342947	ENSG00000105928	24737972	24809244	ENSP00000339587	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs201456060	-	-	-	-	-	-	het	57
17	7	24738159	A	+TACTC	ENST00000409970	ENSG00000105928	24737972	24809244	ENSP00000387119	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs201456060	-	-	-	-	-	-	het	57
18	7	24738159	A	+TACTC	ENST00000419307	ENSG00000105928	24737972	24809244	ENSP00000401332	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs201456060	-	-	-	-	-	-	het	57
19	7	24738159	A	+TACTC	ENST00000479636	ENSG00000105928	24737972	24809244	-	DFNA5	-1	-	c.3997_3998insGAGTA	p.I1333NA	non-syn	rs201456060	-	-	-	-	-	-	het	57
20	7	24738159	A	+TACTC	ENST00000545231	ENSG00000105928	24737972	24809244	ENSP00000442661	DFNA5	-1	DFNA5_HUMAN	-	-	3'_UTR	rs201456060	-	-	-	-	-	-	het	57

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Transcripts and variants in the surrounding DFNA5 7:24737972..24809244 region Gbrowse