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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 KCNC1:

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
ENSG00000129159	KCNC1	0	0	2	ENSG00000129159	ENST00000265969	ENSP00000265969	potassium voltage-gated channel, Shaw-related subfamily, member 1 [Source:HGNC Symbol;Acc:6233]	11	17756359	17804602	1	p15.1	17756359	17804219	KCNC1	KCNC1-002	HGNC Symbol	HGNC transcript name	4	54.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3746	6233	KCNC1	NM_001112741	27504

MSeqDR Master Exome Data Set M1: 147 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	11	17756395	G	C	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	11	17756583	C	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	11	17756788	A	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs143460354	0.0708	-	lod=50:387	-	-	-	het	102
4	11	17756788	A	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs143460354	0.0708	-	lod=50:387	-	-	-	hom	7
5	11	17756861	C	+G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	lod=28:325	-	-	-	het	1
6	11	17756967	C	A	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
7	11	17757024	C	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	11	17757067	G	T	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs188527201	0.01	-	-	-	-	-	het	15
9	11	17757114	A	T	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	11	17757197	C	T	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	lod=111:472	-	-	-	het	2
11	11	17757220	C	-T	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	11	17757223	A	C	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
13	11	17757287	C	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs138190824	0.0288	-	lod=56:399	-	-	-	het	32
14	11	17757287	C	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs138190824	0.0288	-	lod=56:399	-	-	-	hom	2
15	11	17757415	C	T	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	lod=14:251	-	-	-	het	4
16	11	17757417	C	A	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs36101996	0.0469	-	-	-	-	-	het	52
17	11	17757417	C	A	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	rs36101996	0.0469	-	-	-	-	-	hom	2
18	11	17757456	A	G	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	-	-	5'_UTR	NA	-	-	lod=79:436	-	-	-	het	2
19	11	17757621	G	A	ENST00000265969	ENSG00000129159	17756359	17804602	ENSP00000265969	KCNC1	1	-	c.72G>A	p.S24S	syn	rs76929858	0.0767	A=7/G=8523;A=419/G=3965;A=426/G=12488	lod=998:707	-	-	-	het	13
20	11	17757621	G	A	ENST00000379472	ENSG00000129159	17756359	17804602	ENSP00000368785	KCNC1	1	KCNC1_HUMAN	c.72G>A	p.S24S	syn	rs76929858	0.0767	A=7/G=8523;A=419/G=3965;A=426/G=12488	lod=998:707	-	-	-	het	13

** 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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Transcripts and variants in the surrounding KCNC1 11:17756359..17804602 region Gbrowse