Variant Details for NPHP1

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Basic Information Top

Gene Symbol:	NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name:	nephronophthisis 1 (juvenile)
Band:	2q13
Quick Links	Entrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905
Relate to Another Database:	SFARIGene; denovo-db

Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	18	1	0	0	0	0	19

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0001613	2	2q13	110852875	110983050	130175	loss	external link	Pinto, 2010
AutCNV0001612	2	2q13	110849384	111180543	331159	loss	external link	Pinto, 2010
AutCNV0001611	2	2q13	110817833	111180543	362710	gain	external link	Pinto, 2010
AutCNV0001610	2	2q13				gain		Pinto, 2010
AutCNV0001609	2	2q13	110790106	110983050	192944	gain	external link	Pinto, 2010
AutCNV0001608	2	2q13	110693317	111180543	487226	gain	external link	Pinto, 2010
AutCNV0002396	2	2q13	110849384	111180543	331159	loss	external link	Pinto, 2010
AutCNV0001192	2	2q13	110817833	111180543	362710	gain	external link	Pinto, 2010
AutCNV0002395	2	2q13	110841556	111148771	307215	loss	external link	Pinto, 2010
AutCNV0001005	2	2q13	110841556	110983050	141494	loss	external link	Pinto, 2010
AutCNV0002394	2	2q13				gain		Pinto, 2010
AutCNV0002243	2	2q13	110852875	111180543	327668	loss	external link	Pinto, 2010
AutCNV0002242	2	2q13	110849384	111180543	331159	loss	external link	Pinto, 2010
AutCNV0004209	2	2q13				loss		Sanders, 2011
AutCNV0003801	2	2q13	110734113	111066417	332304	loss	external link	Levy, 2011
AutCNV0004690	2	2q13	110504318	110980108	475790	gain	external link	Yasuda Y, 2014
AutCNV0004689	2	2q13	110496601	111388620	892019	gain	external link	Yasuda Y, 2014