Full data view for gene NPHP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW019-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW023-1 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW229-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW247-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW264-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P46 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P48 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.-94_*455{0} r.0 p.0 Both (homozygous) - pathogenic (dominant) g.(?_110880913)_(110962639_?)del g.(?_110123336)_(110205062_?)del NPHP1 deletion - NPHP1_000075 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - - Germline - - - - - DNA SEQ-NG-I - gene panel PKD P50 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+?/. 1_20 c.0 r.0 p.0 Both (homozygous) - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease RC2-03 PubMed: Lindstrand-2014 - M - - Latino - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-03 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-04 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/3 PubMed: Lindstrand-2014 - M - Israel Israeli - - - - 1 LOVD
+?/. 1_20 c.0 r.0 p.0 Unknown - likely pathogenic g.(?_110880913)_(110962639_?)del - NPHP1 del - NPHP1_000075 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/4 PubMed: Lindstrand-2014 - F - Israel Israeli - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-104 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.(?) p.0 Unknown - pathogenic g.? g,? NPHP1 Total deletion - NPHP1_000075 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-39 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-57 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-92 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.? g,? NPHP1 Total deletion (Hom) - NPHP1_000075 homozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease K-1 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.0 r.0 p.0 Maternal (confirmed) - pathogenic g.110600599_111179168del g.109843022_110421591del deletion including NPHP1 - NPHP1_000075 homozygous PubMed: Amiri 2016 - - Germline yes - - - - DNA SEQ-NG, PCR - whole exome sequencing-based copy number variant (CNV) plus polymerase chain reaction/gel electrophoresis analysis SLSN ? PubMed: Amiri 2016 grandparents related; parents first-degree cousins and asymptomatic except history of hypothyroidism in the mother M yes - - - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.