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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 CACNA2D4:

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
ENSG00000151062	CACNA2D4	0	0	19	ENSG00000151062	ENST00000586184	ENSP00000465060	calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]	12	1901123	2028002	-1	p13.33	1904275	2027639	CACNA2D4	CACNA2D4-025	HGNC Symbol	HGNC transcript name	26	50.46	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	93589	20202	CACNA2D4		27519

MSeqDR Master Exome Data Set M1: 1032 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	1901392	T	+CTC	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5672_5673insGAG	p.R1891NA	non-syn	rs77487055	-	-	-	-	-	-	het	100
2	12	1901392	T	+CTC	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5672_5673insGAG	p.R1891NA	non-syn	rs77487055	-	-	-	-	-	-	hom	49
3	12	1901392	T	+CTC	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs77487055	-	-	-	-	-	-	het	100
4	12	1901392	T	+CTC	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs77487055	-	-	-	-	-	-	hom	49
5	12	1901392	T	+CTC	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs77487055	-	-	-	-	-	-	het	100
6	12	1901392	T	+CTC	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs77487055	-	-	-	-	-	-	hom	49
7	12	1901434	C	T	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5631G>A	p.G1877G	syn	rs13219	0.50368	-	-	-	-	-	het	98
8	12	1901434	C	T	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5631G>A	p.G1877G	syn	rs13219	0.50368	-	-	-	-	-	hom	53
9	12	1901434	C	T	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs13219	0.50368	-	-	-	-	-	het	98
10	12	1901434	C	T	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs13219	0.50368	-	-	-	-	-	hom	53
11	12	1901434	C	T	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs13219	0.50368	-	-	-	-	-	het	98
12	12	1901434	C	T	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs13219	0.50368	-	-	-	-	-	hom	53
13	12	1901485	G	T	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5580C>A	p.I1860I	syn	rs1044825	0.51916	-	-	-	-	-	het	99
14	12	1901485	G	T	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5580C>A	p.I1860I	syn	rs1044825	0.51916	-	-	-	-	-	hom	53
15	12	1901485	G	T	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs1044825	0.51916	-	-	-	-	-	het	99
16	12	1901485	G	T	ENST00000382722	ENSG00000151062	1901123	2028002	ENSP00000372169	CACNA2D4	-1	CA2D4_HUMAN	-	-	3'_UTR	rs1044825	0.51916	-	-	-	-	-	hom	53
17	12	1901485	G	T	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs1044825	0.51916	-	-	-	-	-	het	99
18	12	1901485	G	T	ENST00000537784	ENSG00000151062	1901123	2028002	ENSP00000440231	CACNA2D4	-1	-	-	-	3'_UTR	rs1044825	0.51916	-	-	-	-	-	hom	53
19	12	1901546	A	C	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5519T>G	p.I1840R	non-syn	rs12811035	0.16455	-	-	-	-	-	het	55
20	12	1901546	A	C	ENST00000280663	ENSG00000151062	1901123	2028002	-	CACNA2D4	-1	-	c.5519T>G	p.I1840R	non-syn	rs12811035	0.16455	-	-	-	-	-	hom	12

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Transcripts and variants in the surrounding CACNA2D4 12:1901123..2028002 region Gbrowse