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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 KCNC3:

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
ENSG00000131398	KCNC3	1	0	6	ENSG00000131398	ENST00000376959	ENSP00000366158	potassium voltage-gated channel, Shaw-related subfamily, member 3 [Source:HGNC Symbol;Acc:6235]	19	50815194	50836772	-1	q13.33	50815194	50832503	KCNC3	KCNC3-002	HGNC Symbol	HGNC transcript name	4	59.36	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	3748	6235	KCNC3		27526

MSeqDR Master Exome Data Set M1: 119 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	50816043	G	T	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	rs2278902	0.4561	-	-	-	-	-	hom	1
2	19	50816043	G	T	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	rs2278902	0.4561	-	-	-	-	-	hom	1
3	19	50816043	G	T	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	rs2278902	0.4561	-	-	-	-	-	hom	1
4	19	50817856	T	+CC	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
5	19	50817856	T	+CC	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
6	19	50817856	T	+CC	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
7	19	50817856	T	+C	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
8	19	50817856	T	+C	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
9	19	50817856	T	+C	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	1
10	19	50817858	G	C	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	5
11	19	50817858	G	C	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	hom	1
12	19	50817858	G	C	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	5
13	19	50817858	G	C	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	hom	1
14	19	50817858	G	C	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	het	5
15	19	50817858	G	C	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	lod=66:417	-	-	-	hom	1
16	19	50817860	G	T	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	rs114185349	0.0368	-	lod=66:417	-	-	-	hom	1
17	19	50817860	G	T	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	rs114185349	0.0368	-	lod=66:417	-	-	-	hom	1
18	19	50817860	G	T	ENST00000474951	ENSG00000131398	50815194	50836772	ENSP00000432438	KCNC3	-1	-	-	-	3'_UTR	rs114185349	0.0368	-	lod=66:417	-	-	-	hom	1
19	19	50817887	A	G	ENST00000376959	ENSG00000131398	50815194	50836772	ENSP00000366158	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	19	50817887	A	G	ENST00000391818	ENSG00000131398	50815194	50836772	ENSP00000375694	KCNC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding KCNC3 19:50815194..50836772 region Gbrowse