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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 CACNA1H:

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
ENSG00000196557	CACNA1H	0	0	30	ENSG00000196557	ENST00000348261	ENSP00000334198	calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]	16	1203241	1271771	1	p13.3	1203241	1271768	CACNA1H	CACNA1H-001	HGNC Symbol	HGNC transcript name	9	65.09	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8912	1395	CACNA1H	NM_021098	27514

MSeqDR Master Exome Data Set M1: 1313 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	16	1203714	C	G	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	-	-	-6bp 3'_splice_site	rs28365127	-	-	-	-	-	-	het	1
2	16	1203714	C	G	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	-	-	-6bp 3'_splice_site	rs28365127	-	-	-	-	-	-	hom	1
3	16	1203714	C	G	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	-	-	-6bp 3'_splice_site	rs28365127	-	-	-	-	-	-	het	1
4	16	1203714	C	G	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	-	-	-6bp 3'_splice_site	rs28365127	-	-	-	-	-	-	hom	1
5	16	1203758	C	T	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.21C>T	p.A7A	syn	NA	-	-	lod=81:439	-	-	-	het	2
6	16	1203758	C	T	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	c.21C>T	p.A7A	syn	NA	-	-	lod=81:439	-	-	-	het	2
7	16	1203758	C	T	ENST00000565831	ENSG00000196557	1203241	1271771	ENSP00000455840	CACNA1H	1	CAC1H_HUMAN	c.21C>T	p.A7A	syn	NA	-	-	lod=81:439	-	-	-	het	2
8	16	1203830	G	A	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.93G>A	p.E31E	syn	rs191613214	0.01	-	-	-	-	-	het	4
9	16	1203830	G	A	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	c.93G>A	p.E31E	syn	rs191613214	0.01	-	-	-	-	-	het	4
10	16	1203830	G	A	ENST00000565831	ENSG00000196557	1203241	1271771	ENSP00000455840	CACNA1H	1	CAC1H_HUMAN	c.93G>A	p.E31E	syn	rs191613214	0.01	-	-	-	-	-	het	4
11	16	1203845	G	C	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.108G>C	p.P36P	syn	rs28365126	-	-	lod=13:243	-	-	-	het	2
12	16	1203845	G	C	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	c.108G>C	p.P36P	syn	rs28365126	-	-	lod=13:243	-	-	-	het	2
13	16	1203845	G	C	ENST00000565831	ENSG00000196557	1203241	1271771	ENSP00000455840	CACNA1H	1	CAC1H_HUMAN	c.108G>C	p.P36P	syn	rs28365126	-	-	lod=13:243	-	-	-	het	2
14	16	1203917	G	C	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.180G>C	p.A60A	syn	NA	-	-	-	-	-	-	het	2
15	16	1203917	G	C	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	c.180G>C	p.A60A	syn	NA	-	-	-	-	-	-	het	2
16	16	1203917	G	C	ENST00000565831	ENSG00000196557	1203241	1271771	ENSP00000455840	CACNA1H	1	CAC1H_HUMAN	c.180G>C	p.A60A	syn	NA	-	-	-	-	-	-	het	2
17	16	1203977	C	T	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.240C>T	p.F80F	syn	NA	-	-	lod=140:497	-	-	-	het	3
18	16	1203977	C	T	ENST00000358590	ENSG00000196557	1203241	1271771	ENSP00000351401	CACNA1H	1	CAC1H_HUMAN	c.240C>T	p.F80F	syn	NA	-	-	lod=140:497	-	-	-	het	3
19	16	1203977	C	T	ENST00000565831	ENSG00000196557	1203241	1271771	ENSP00000455840	CACNA1H	1	CAC1H_HUMAN	c.240C>T	p.F80F	syn	NA	-	-	lod=140:497	-	-	-	het	3
20	16	1204007	C	G	ENST00000348261	ENSG00000196557	1203241	1271771	ENSP00000334198	CACNA1H	1	CAC1H_HUMAN	c.270C>G	p.R90R	syn	NA	-	-	lod=140:497	-	-	-	het	7

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding CACNA1H 16:1203241..1271771 region Gbrowse