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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 PRPH2:

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
ENSG00000112619	PRPH2	0	0	101	ENSG00000112619	ENST00000230381	ENSP00000230381	peripherin 2 (retinal degeneration, slow) [Source:HGNC Symbol;Acc:9942]	6	42664340	42690312	-1	p21.1	42664340	42690312	PRPH2	PRPH2-001	HGNC Symbol	HGNC transcript name	1	49.24	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5961	9942	PRPH2	NM_000322	27515

MSeqDR Master Exome Data Set M1: 66 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	6	42664341	A	G	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	6	42664346	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs139177846	0.0018	-	-	-	-	-	het	9
3	6	42664346	G	C	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	6	42664468	C	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs41273818	0.00542	-	-	-	-	-	het	9
5	6	42664499	A	G	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs115252154	0.0338	-	-	-	-	-	het	4
6	6	42664509	C	G	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs183409467	0.0042	-	-	-	-	-	het	1
7	6	42664658	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs405043	0.7623	-	-	-	-	-	het	219
8	6	42664658	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs405043	0.7623	-	-	-	-	-	hom	417
9	6	42664661	G	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs56385342	-	-	-	-	-	-	het	4
10	6	42664663	T	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs1804284	0.0448	-	-	-	-	-	het	3
11	6	42664676	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs405059	0.75967	-	-	-	-	-	het	219
12	6	42664676	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs405059	0.75967	-	-	-	-	-	hom	416
13	6	42664767	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	6	42665032	G	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs45550933	0.2061	-	-	-	-	-	het	121
15	6	42665032	G	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs45550933	0.2061	-	-	-	-	-	hom	53
16	6	42665044	C	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs142990052	0.0127	-	-	-	-	-	het	3
17	6	42665135	G	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs3176988	0.21857	-	-	-	-	-	het	251
18	6	42665135	G	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs3176988	0.21857	-	-	-	-	-	hom	53
19	6	42665194	C	T	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs73426405	0.0497	-	-	-	-	-	het	3
20	6	42665271	G	A	ENST00000230381	ENSG00000112619	42664340	42690312	ENSP00000230381	PRPH2	-1	PRPH2_HUMAN	-	-	3'_UTR	rs1758213	0.75941	-	-	-	-	-	het	218

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Transcripts and variants in the surrounding PRPH2 6:42664340..42690312 region Gbrowse