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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 CACNA1A:

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
ENSG00000141837	CACNA1A	0	0	103	ENSG00000141837	ENST00000574822		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:HGNC Symbol;Acc:1388]	19	13317256	13734804	-1	p13.2	13339894	13363894	CACNA1A	CACNA1A-003	HGNC Symbol	HGNC transcript name	13	47.45	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	100507353	1388	CACNA1A		27526

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	19	13317457	T	C	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs79246064	0.0595	-	lod=249:559	DAMAGING	-	-	het	12
2	19	13317457	T	C	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs79246064	0.0595	-	lod=249:559	DAMAGING	-	-	hom	1
3	19	13317457	T	C	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs79246064	0.0595	-	lod=249:559	DAMAGING	-	-	het	12
4	19	13317457	T	C	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs79246064	0.0595	-	lod=249:559	DAMAGING	-	-	hom	1
5	19	13317490	G	-TTA	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs143342886	-	-	-	-	-	-	het	433
6	19	13317490	G	-TTA	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs143342886	-	-	-	-	-	-	hom	87
7	19	13317490	G	-TTA	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs143342886	-	-	-	-	-	-	het	433
8	19	13317490	G	-TTA	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs143342886	-	-	-	-	-	-	hom	87
9	19	13317583	G	A	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs141221917	0.01267	-	lod=193:532	DAMAGING	-	-	het	12
10	19	13317583	G	A	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs141221917	0.01267	-	lod=193:532	DAMAGING	-	-	hom	1
11	19	13317583	G	A	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs141221917	0.01267	-	lod=193:532	DAMAGING	-	-	het	12
12	19	13317583	G	A	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs141221917	0.01267	-	lod=193:532	DAMAGING	-	-	hom	1
13	19	13317599	C	-TGG	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs146613209	-	-	-	-	-	-	het	3
14	19	13317599	C	-TGG	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs146613209	-	-	-	-	-	-	het	3
15	19	13317645	T	C	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	19	13317645	T	C	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	19	13317980	G	T	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs7254351	0.4296	-	-	-	-	-	hom	48
18	19	13317980	G	T	ENST00000360228	ENSG00000141837	13317256	13734804	ENSP00000353362	CACNA1A	-1	CAC1A_HUMAN	-	-	3'_UTR	rs7254351	0.4296	-	-	-	-	-	het	55
19	19	13317980	G	T	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs7254351	0.4296	-	-	-	-	-	hom	48
20	19	13317980	G	T	ENST00000587525	ENSG00000141837	13317256	13734804	ENSP00000467729	CACNA1A	-1	-	-	-	3'_UTR	rs7254351	0.4296	-	-	-	-	-	het	55

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Transcripts and variants in the surrounding CACNA1A 19:13317256..13734804 region Gbrowse