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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 CCDC50:

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
ENSG00000152492	CCDC50	0	0	29	ENSG00000152492	ENST00000392455	ENSP00000376249	coiled-coil domain containing 50 [Source:HGNC Symbol;Acc:18111]	3	191046866	191116459	1	q28	191046866	191116459	CCDC50	CCDC50-001	HGNC Symbol	HGNC transcript name	3	36.59	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	152137	18111	CCDC50	NM_174908	27517

MSeqDR Master Exome Data Set M1: 205 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	3	191046877	A	G	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs115064906	0.051	-	-	-	-	-	het	1
2	3	191046877	A	G	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs115064906	0.051	-	-	-	-	-	het	1
3	3	191046912	G	A	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	3	191046912	G	A	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
5	3	191046930	C	G	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs79488711	0.058	-	-	-	-	-	het	2
6	3	191046930	C	G	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs79488711	0.058	-	-	-	-	-	het	2
7	3	191046958	C	T	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	0.0023	-	-	-	-	-	het	6
8	3	191046958	C	T	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	0.0023	-	-	-	-	-	het	6
9	3	191047007	G	A	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
10	3	191047007	G	A	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
11	3	191047050	G	A	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs182001630	0.0083	-	-	-	-	-	het	13
12	3	191047050	G	A	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs182001630	0.0083	-	-	-	-	-	het	13
13	3	191047081	G	A	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs186382346	0.0102	-	-	-	-	-	het	5
14	3	191047081	G	A	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	rs186382346	0.0102	-	-	-	-	-	het	5
15	3	191047133	C	T	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	3
16	3	191047133	C	T	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	3
17	3	191047137	C	G	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1
18	3	191047137	C	G	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1
19	3	191047167	T	G	ENST00000392455	ENSG00000152492	191046866	191116459	ENSP00000376249	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1
20	3	191047167	T	G	ENST00000392456	ENSG00000152492	191046866	191116459	ENSP00000376250	CCDC50	1	CCD50_HUMAN	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1

** 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 CCDC50 3:191046866..191116459 region Gbrowse