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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 NPHP1:

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
ENSG00000144061	NPHP1	0	0	30	ENSG00000144061	ENST00000316534	ENSP00000313169	nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]	2	110879888	110962643	-1	q13	110879888	110962619	NPHP1	NPHP1-002	HGNC Symbol	HGNC transcript name	11	39.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4867	7905	NPHP1		27508

MSeqDR Master Exome Data Set M1: 258 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	2	110880046	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs13386424	0.5211	-	-	-	-	-	het	15
2	2	110880046	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs13386424	0.5211	-	-	-	-	-	hom	1
3	2	110880187	C	T	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs1828277	0.99705	-	-	-	-	-	hom	651
4	2	110880304	A	G	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	2	110880459	A	G	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs114257431	0.0224	-	-	-	-	-	het	4
6	2	110880545	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs73954612	0.1368	-	-	-	-	-	het	7
7	2	110880545	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs73954612	0.1368	-	-	-	-	-	hom	1
8	2	110880644	C	T	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs73954613	0.1342	-	-	-	-	-	het	7
9	2	110880644	C	T	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs73954613	0.1342	-	-	-	-	-	hom	1
10	2	110880739	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	2	110880866	C	T	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs114393408	0.0028	-	-	-	-	-	het	1
12	2	110880871	A	G	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	2	110881118	G	A	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs150558683	0.023	-	-	-	-	-	het	1
14	2	110881118	G	A	ENST00000393272	ENSG00000144061	110879888	110962643	ENSP00000376953	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs150558683	0.023	-	-	-	-	-	het	1
15	2	110881118	G	A	ENST00000445609	ENSG00000144061	110879888	110962643	ENSP00000389879	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs150558683	0.023	-	-	-	-	-	het	1
16	2	110881118	G	A	ENST00000496524	ENSG00000144061	110879888	110962643	-	NPHP1	-1	-	c.9813C>T	p.S3271S	syn	rs150558683	0.023	-	-	-	-	-	het	1
17	2	110881174	A	G	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs189472793	0.0032	-	-	-	-	-	het	4
18	2	110881174	A	G	ENST00000316534	ENSG00000144061	110879888	110962643	ENSP00000313169	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs189472793	0.0032	-	-	-	-	-	hom	1
19	2	110881174	A	G	ENST00000393272	ENSG00000144061	110879888	110962643	ENSP00000376953	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs189472793	0.0032	-	-	-	-	-	het	4
20	2	110881174	A	G	ENST00000393272	ENSG00000144061	110879888	110962643	ENSP00000376953	NPHP1	-1	NPHP1_HUMAN	-	-	3'_UTR	rs189472793	0.0032	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding NPHP1 2:110879888..110962643 region Gbrowse