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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 CACNA1C:

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
ENSG00000151067	CACNA1C	0	0	168	ENSG00000151067	ENST00000399634	ENSP00000382542	calcium channel, voltage-dependent, L type, alpha 1C subunit [Source:HGNC Symbol;Acc:1390]	12	2079952	2802108	1	p13.33	2162729	2801325	CACNA1C	CACNA1C-012	HGNC Symbol	HGNC transcript name	30	47.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	775	1390	CACNA1C	NM_001167625	27519

MSeqDR Master Exome Data Set M1: 2155 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	12	2080008	T	C	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	-	-	5'_UTR	rs10774009	0.98355	-	-	-	-	-	hom	302
2	12	2080008	T	C	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	-	-	5'_UTR	rs10774009	0.98355	-	-	-	-	-	het	6
3	12	2080086	C	T	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	12	2080300	G	A	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	c.72G>A	p.T24T	syn	NA	-	-	-	-	-	-	het	2
5	12	2080373	A	G	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	-	-	+6bp 5'_splice_site	rs112721107	0.03074	-	-	-	-	-	het	36
6	12	2080373	A	G	ENST00000543114	ENSG00000151067	2079952	2802108	ENSP00000445849	CACNA1C	1	-	-	-	+6bp 5'_splice_site	rs112721107	0.03074	-	-	-	-	-	hom	2
7	12	2162548	G	A	ENST00000335762	ENSG00000151067	2079952	2802108	ENSP00000336982	CACNA1C	1	-	-	-	5'_UTR	rs112412740	0.0061	-	lod=457:624	-	-	-	het	5
8	12	2162548	G	A	ENST00000399655	ENSG00000151067	2079952	2802108	ENSP00000382563	CACNA1C	1	CAC1C_HUMAN	-	-	5'_UTR	rs112412740	0.0061	-	lod=457:624	-	-	-	het	5
9	12	2162570	C	G	ENST00000335762	ENSG00000151067	2079952	2802108	ENSP00000336982	CACNA1C	1	-	-	-	5'_UTR	NA	-	-	lod=457:624	-	-	-	het	1
10	12	2162570	C	G	ENST00000399655	ENSG00000151067	2079952	2802108	ENSP00000382563	CACNA1C	1	CAC1C_HUMAN	-	-	5'_UTR	NA	-	-	lod=457:624	-	-	-	het	1
11	12	2162650	T	+A	ENST00000335762	ENSG00000151067	2079952	2802108	ENSP00000336982	CACNA1C	1	-	-	-	5'_UTR	rs138130246	-	-	lod=457:624	-	-	-	het	3
12	12	2162650	T	+A	ENST00000399655	ENSG00000151067	2079952	2802108	ENSP00000382563	CACNA1C	1	CAC1C_HUMAN	-	-	5'_UTR	rs138130246	-	-	lod=457:624	-	-	-	het	3
13	12	2224448	G	A	ENST00000327702	ENSG00000151067	2079952	2802108	ENSP00000329877	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
14	12	2224448	G	A	ENST00000335762	ENSG00000151067	2079952	2802108	ENSP00000336982	CACNA1C	1	-	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
15	12	2224448	G	A	ENST00000344100	ENSG00000151067	2079952	2802108	ENSP00000341092	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
16	12	2224448	G	A	ENST00000347598	ENSG00000151067	2079952	2802108	ENSP00000266376	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
17	12	2224448	G	A	ENST00000399591	ENSG00000151067	2079952	2802108	ENSP00000382500	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
18	12	2224448	G	A	ENST00000399595	ENSG00000151067	2079952	2802108	ENSP00000382504	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
19	12	2224448	G	A	ENST00000399597	ENSG00000151067	2079952	2802108	ENSP00000382506	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2
20	12	2224448	G	A	ENST00000399601	ENSG00000151067	2079952	2802108	ENSP00000382510	CACNA1C	1	CAC1C_HUMAN	c.108G>A	p.A36A	syn	NA	-	-	lod=33:343	-	-	-	het	2

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Transcripts and variants in the surrounding CACNA1C 12:2079952..2802108 region Gbrowse