Full data view for gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 24 c.3250dup r.(?) p.(Val1084Glyfs*12) Unknown - pathogenic g.36322587dup g.35831685dup nt3250(insG); c.3243_3250insG: V1084fsX1095; c.3250_3251insG; c.3243_3250insG - NPHS1_000112 3 Arabic CNF patients (hom), 2 North American CNF patients (com-het), 1 English (com-het), 1 Korean (com-het), 1 Chinese (hom) and 1 Caucasian (com-het) CNF patient, and 1 Turkish CNF family (hom) PubMed: Kestila et al. 1998, PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Lee et al. 2009, PubMed: Schoeb et al. 2010, PubMed: Yu et al. 2012 - - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+/+? 24 c.3250dup r.(?) p.(Val1084Glyfs*12) Maternal (confirmed) - pathogenic g.36322587dup g.35831685dup - - NPHS1_000112 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - - - DNA SEQ-NG, SEQ-NG-I - - NPHS - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - 1 Elisabet Ars Criach
+/. 24 c.3250dup r.(?) p.(Val1084Glyfs*12) Both (homozygous) - pathogenic g.36322587dup g.35831685dup - - NPHS1_000112 - - - - Germline - - - - - DNA SEQ-NG-I - - NPHS1 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - 1 Elisabet Ars Criach
+/. - c.3250dup r.(?) p.(Val1084GlyfsTer12) Unknown - pathogenic g.36322587dup g.35831685dup NPHS1(NM_004646.3):c.3250dupG (p.V1084Gfs*12) - NPHS1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3250dup r.(?) p.(Val1084GlyfsTer12) Unknown - pathogenic g.36322587dup g.35831685dup NPHS1(NM_004646.3):c.3250dupG (p.V1084Gfs*12) - NPHS1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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