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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 CCND1:

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
ENSG00000110092	CCND1	0	0	1	ENSG00000110092	ENST00000227507	ENSP00000227507	cyclin D1 [Source:HGNC Symbol;Acc:1582]	11	69455855	69469242	1	q13.3	69455855	69469242	CCND1	CCND1-001	HGNC Symbol	HGNC transcript name	6	58.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	595	1582	CCND1	NM_053056	27504

MSeqDR Master Exome Data Set M1: 81 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	11	69455962	C	T	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	-	-	5'_UTR	NA	-	-	lod=641:660	-	-	-	het	1
2	11	69455962	C	T	ENST00000539241	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.30C>T	p.S10S	syn	NA	-	-	lod=641:660	-	-	-	het	1
3	11	69456000	G	C	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	-	-	5'_UTR	rs55911137	0.0293	-	-	-	-	-	het	20
4	11	69456000	G	C	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	-	-	5'_UTR	rs55911137	0.0293	-	-	-	-	-	hom	1
5	11	69456000	G	C	ENST00000535993	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.2G>C	p.R1P	non-syn	rs55911137	0.0293	-	-	-	-	-	het	20
6	11	69456000	G	C	ENST00000535993	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.2G>C	p.R1P	non-syn	rs55911137	0.0293	-	-	-	-	-	hom	1
7	11	69456000	G	C	ENST00000536559	ENSG00000110092	69455855	69469242	ENSP00000438482	CCND1	1	-	-	-	5'_UTR	rs55911137	0.0293	-	-	-	-	-	het	20
8	11	69456000	G	C	ENST00000536559	ENSG00000110092	69455855	69469242	ENSP00000438482	CCND1	1	-	-	-	5'_UTR	rs55911137	0.0293	-	-	-	-	-	hom	1
9	11	69456000	G	C	ENST00000539241	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.68G>C	p.R23P	non-syn	rs55911137	0.0293	-	-	-	-	-	het	20
10	11	69456000	G	C	ENST00000539241	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.68G>C	p.R23P	non-syn	rs55911137	0.0293	-	-	-	-	-	hom	1
11	11	69456033	C	G	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	11	69456033	C	G	ENST00000535993	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.35C>G	p.P12R	non-syn	NA	-	-	-	-	-	-	het	1
13	11	69456033	C	G	ENST00000536559	ENSG00000110092	69455855	69469242	ENSP00000438482	CCND1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	11	69456033	C	G	ENST00000539241	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.101C>G	p.P34R	non-syn	NA	-	-	-	-	-	-	het	1
15	11	69456047	C	G	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	-	-	5'_UTR	rs11557585	-	G=4/C=8584;G=37/C=4363;G=41/C=12947	-	-	-	-	het	1
16	11	69456047	C	G	ENST00000535993	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.49C>G	p.Q17E	non-syn	rs11557585	-	G=4/C=8584;G=37/C=4363;G=41/C=12947	-	-	-	-	het	1
17	11	69456047	C	G	ENST00000536559	ENSG00000110092	69455855	69469242	ENSP00000438482	CCND1	1	-	-	-	5'_UTR	rs11557585	-	G=4/C=8584;G=37/C=4363;G=41/C=12947	-	-	-	-	het	1
18	11	69456047	C	G	ENST00000539241	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.115C>G	p.Q39E	non-syn	rs11557585	-	G=4/C=8584;G=37/C=4363;G=41/C=12947	-	-	-	-	het	1
19	11	69456100	T	C	ENST00000227507	ENSG00000110092	69455855	69469242	ENSP00000227507	CCND1	1	CCND1_HUMAN	c.19T>C	p.C7R	non-syn	NA	-	-	lod=978:705	DAMAGING	D	-	het	1
20	11	69456100	T	C	ENST00000535993	ENSG00000110092	69455855	69469242	-	CCND1	1	-	c.102T>C	p.C34C	syn	NA	-	-	lod=978:705	DAMAGING	D	-	het	1

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Transcripts and variants in the surrounding CCND1 11:69455855..69469242 region Gbrowse