Full data view for gene NPHS1

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

234 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 00 c.-475_-468delGAGAGAGA - r.? p.? Unknown g.36343207_36343214delTCTCTCTC - promoter, nt-489(del(GA)4) - NPHS1_000012 1 North American CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
?/? 00 c.-469_-468delGA - r.? p.? Unknown g.36343207_36343208delTC - promoter, nt-489(delGA) - NPHS1_000011 1 North African CNF family (hom) PubMed: Lenkkeri at al. 1999 rs139954720 SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 00 c.-340G>C - r.? p.? Unknown g.36343079C>G - nt340 (G→C): Promoter change - NPHS1_000010 2 English CNF patients (com-het) PubMed: Koziell et al. 2002 rs1137844 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.? - r.? p.? Both (homozygous) g.? - c.3426A>G; p.T1182A - NPHS1_000138 variant not possible (incorrect nucleotide/amino acid); 1 early onset nephrotic syndrome patient from Pakistan (hom) PubMed: Abid et al. 2012 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i01 c.58+1G>T - r.spl? p.? Maternal (confirmed) g.36342681C>A - c.58+1G>T: Splice error - NPHS1_000013 1 Indian CNF family (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+/+ - c.106delG - r.(?) p.(Ala36Profs*6) Paternal (confirmed) g.36342527delC - - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50) Unknown g.36342511_36342512delAG - Deletion of nucleotides 121-122 (CT) in exon 2; nt121(del2): frameshift, truncated 90-residue protein. Finmajor mutation. - NPHS1_000014 Finnish Major CNF mutation (Finmajor): >44 Finnish CNF patients (most hom), 1 North American CNF patient (com-het) and 2 Swedish CNF families (1 hom and 1 com-het) PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 1/83 FIN CON (h - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.139delG - r.(139delg) p.(Ala47Profs*81) Unknown g.36342494delC - Ex2, c.139delG(h) = E46fsX127 - NPHS1_000015 3 Hispanic (com-het) and 1 African American (hom) CNF patient PubMed: Heeringa et al. 2008, PubMed: Ovunc et al. 2012 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 02 c.191G>C - r.(191g>c) p.(Trp64Ser) Unknown g.36342442C>G - exon 2 nt191(G>C): Trp64>Ser - NPHS1_000016 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.248dupA - r.(248dupa) p.(Tyr83*) Maternal (confirmed) g.36342385dup - c.248insA: frameshift resulting in a premature termination of translation and truncated protein of 83 amino acids - NPHS1_000017 1 Italian CNF family PubMed: Gigante et al. 2005 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.286C>G - r.(286c>g) p.(Leu96Val) Paternal (confirmed) g.36342275G>C - c.286C>G: p.L96V - NPHS1_000018 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/94 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.313G>A - r.(313g>a) p.(Asp105Asn) Unknown g.36342248C>T - 313G>A: D105N - NPHS1_000019 2 Japanese CNF patients (com-het) PubMed: Sako et al. 2005 - SUMMARY record yes 0/200 JAP CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.319G>A - r.(319g>a) p.(Ala107Thr) Paternal (confirmed) g.36342242C>T - c.319G>A: p.A107T - NPHS1_000020 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/94 CON - - - - - - - - - - - - - - - - - - - - -
?/? 03 c.320C>T - r.(320c>u) p.(Ala107Val) Unknown g.36342241G>A - c.C320T: p.A107V - NPHS1_000021 2 Indian CNF patients (1 com-het and 1 het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 3 c.361G>A - r.(?) p.(Glu121Lys) Maternal (confirmed) g.36342200C>T - - - NPHS1_000147 - PubMed: Santín et al. 2009 - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPHS - - - - - - - - 0 - - 1 Elisabet Ars Criach
+?/+? i03 c.398-1G>A - r.spl? p.? Unknown g.36341992C>T - 275–1G>A(h) = splice site - NPHS1_000022 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.468C>G - r.(468c>g) p.(Tyr156*) Unknown g.36341921G>C - 468C>G: Y156X - NPHS1_000023 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.468C>G - r.(?) p.(Tyr156*) Paternal (confirmed) g.36341921G>C - - - NPHS1_000023 - Bullich G et al, submitted - Germline - - - 0 - DNA DGGE, SEQ, SEQ-NG-I - - NPHS-1 - - - - - - - - 0 - - 1 Elisabet Ars Criach
+?/+? 04 c.479G>C - r.(479g>c) p.(Cys160Ser) Paternal (confirmed) g.36341910C>G - 479G>C: Cys160Ser - NPHS1_000024 1 Japanese CNF family (com-het) PubMed: Aya et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.500C>T - r.(500c>u) p.(Pro167Leu) Both (homozygous) g.36341889G>A - c.C500T: p.P167L - NPHS1_000025 1 Indian CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.512T>A - r.(512u>a) p.(Ile171Asn) Unknown g.36341877A>T - exon 4 nt512(T>A): Ile171>Asn - NPHS1_000026 1 Turkish CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.515_517del - r.(?) p.(Thr172del) Paternal (confirmed) g.36341872_36341874del - - - NPHS1_000146 - PubMed: Santín et al. 2011 - Germline - - - 0 - DNA SEQ-NG, SEQ-NG-I - - NPHS - - - - - - - - 0 - - 1 Elisabet Ars Criach
+?/+? 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del) Unknown g.36341872_36341874delTGG - nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del - NPHS1_000027 1 Dutch CNF family (com-het), 1 Middle Eastern (hom) and 1 Egyptian (hom) CNF patient and CNF patients with non specified number and origin PubMed: Lenkkeri at al. 1999, PubMed: Beltcheva et al. 2001, PubMed: Koziell et al. 2002, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.516delC - r.(516delc) p.(Ile173Phefs*3) Unknown g.36341873delG - c.516delC: p.T712fs175X - NPHS1_000028 2 CNF patients (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.518T>A - r.(518u>a) p.(Ile173Asn) Unknown g.36341871A>T - exon 4 nt518(T>A): Ile173>Asn - NPHS1_000029 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? i04 c.526+5G>C - r.spl? p.? Unknown g.36341858C>G - intron 4, nt526+5(G>C): Splice-site mutation - NPHS1_000030 1 Swedish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 05 c.532C>T - r.(532c>u) p.(Gln178*) Unknown g.36341342G>A - 532C>T: Q178X - NPHS1_000031 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9) Unknown g.36341340delC - exon 5, nt534(delG): frameshift and trunc. 180-res. protein - NPHS1_000032 1 North American CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 05 c.574C>T - r.(574c>u) p.(Gln192*) Unknown g.36341300G>A - c.C574T: p.Q193X - NPHS1_000033 1 Arabic CNF patient (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? i05 c.609-2A>C - r.spl? p.? Maternal (confirmed) g.36340557T>G - c.609-2A>C - NPHS1_000034 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle) Unknown g.36340543_36340550delinsAA - exon 6, nt603(delCACCCCGG,insTT): Tyr205, Pro206, Arg207→Ile205; Ex6, c.603del8ins2: Y205,P206,R207 = I205; c.613_620delinsTT: p.T205,P206,R207>I205 - NPHS1_000035 1 Turkish CNF family (hom), 2 European CNF patients (com-het), 1 Pakistan CNF patient (hom), 1 Caucasian CNF patient (com-het) and 1 Tunisian CNF patient (hom) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Schoeb et al. 2010, PubMed: Mbarek et al. 2011 - SUMMARY record yes 0/93 CON - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.658T>G - r.(?) p.(Ser220Ala) Unknown g.36340506A>C - - - NPHS1_000005 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/+ 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31) Unknown g.36340502_36340503delCT - nt661 (delAG): Frameshift and truncation - NPHS1_000036 1 English CNF patient (com-het) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.692C>A - r.(692c>a) p.(Ser231*) Unknown g.36340472G>T - 692C>A: S231X - NPHS1_000037 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.710T>C - r.(?) p.(Leu237Pro) Parent #1 g.36340454A>G - - - NPHS1_000136 1 early onset nephrotic syndrome patient from Pakistan (com-het) PubMed: Abid et al. 2012 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 07 c.736G>T - r.(736g>u) p.(Glu246*) Unknown g.36340242C>A - 736G>T: E246X - NPHS1_000038 3 Japanese CNF families (1 hom and 2 com-het)) PubMed: Sako et al. 2005, PubMed: Aya et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.766C>T - r.(766c>u) p.(Arg256Trp) Unknown g.36340212G>A - Ex7, c.767C>T(h) = R256W - NPHS1_000039 1 Arabic CNF patient (hom) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C - - - NPHS1_000006 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C - - - NPHS1_000006 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 07 c.791C>G - r.(791c>g) p.(Pro264Arg) Unknown g.36340187G>C - nt791 (C→G): P264R - NPHS1_000006 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 rs34982899 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C - - - NPHS1_000006 - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, 2 affecteds, patient I.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C - - - NPHS1_000006 - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, sister of PatI.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C - - - NPHS1_000006 - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Father of 00025020 and 00025118 M ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C - - - NPHS1_000006 - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Mother of 00025020 and 00025118 F ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
+?/+? 07 c.808G>T - r.(808g>u) p.(Gly270Cys) Unknown g.36340170C>A - exon 7 nt808(G>T): Gly270>Cys - NPHS1_000041 1 English CNF family (com-het) and 1 English CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 08 c.886G>A - c.886G>A p.(Ala296Thr) Unknown g.36340004C>T - c.G886A: p.W289X - NPHS1_000042 1 Turkish CNF patient (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1019C>A - r.(1019c>a) p.(Pro340His) Unknown g.36339690G>T - c.C1019A: p.P340H - NPHS1_000043 1 Afghanistanian (hom) and 1 Asian (com-het) CNF patient (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1040G>A - r.(1040g>a) p.(Gly347Glu) Unknown g.36339669C>T - c.G1040A: p.G347E - NPHS1_000044 1 Arabic CNF patient (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1048T>C - r.(1048u>c) p.(Ser350Pro) Unknown g.36339661A>G - exon 9 nt1048(T>C): Ser350>Pro; c.T1048C: p.S350P - NPHS1_000045 1 French CNF family (com-het) and 1 Romanian CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1096A>C - r.(1096a>c) p.(Ser366Arg) Unknown g.36339613T>G - exon 9 nt1096(A>C): Ser366>Arg; c.A1096C: p.S366R - NPHS1_000046 1 Croatian CNF family (hom), 1 North American CNF family (com-het) and 2 Serbian CNF patients (1 hom and 1 com-het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1099C>T - r.(1099c>u) p.(Arg367Cys) Unknown g.36339610G>A - exon 9 nt1099(C>T): Arg367>Cys; c.C1099T: p.R367C - NPHS1_000047 1 French CNF family (com-het), 3 Indian CNF patients (hom) and 2 CNF patients of unknown ethnicity (hom) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Schoeb et al. 2010, PubMed: Ovunc et al. 2012, PubMed: Kari et al. 2014 - SUMMARY record yes 0/93 CON - 0 - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1099C>T - r.(?) p.(Arg367Cys) Paternal (confirmed) g.36339610G>A - - - NPHS1_000047 - PubMed: Santín et al. 2009 - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPHS - - - - - - - - 0 - - 1 Elisabet Ars Criach
+?/+? 09 c.1100G>A - r.(1100g>a) p.(Arg367His) Unknown g.36339609C>T - 1100G>A: R367H - NPHS1_000048 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1102C>T - r.(1102c>u) p.(Pro368Ser) Unknown g.36339607G>A - exon 9 nt1102 (C>T): Pro368>Ser - NPHS1_000049 1 Dutch CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1103C>T - r.(1103c>u) p.(Pro368Leu) Unknown g.36339606G>A - 1103C>T: P368L - NPHS1_000050 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1126C>G - r.(1126c>g) p.(Leu376Val) Unknown g.36339583G>C - exon 9 nt1126 (C>G): Leu376>Val - NPHS1_000051 1 Dutch CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON 9 - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1134G>A - r.(1134g>a) p.(Trp378*) Unknown g.36339575C>T - c.G1134A: p.W378X - NPHS1_000052 1 Arabic CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1135C>T - r.(1135c>u) p.(Arg379Trp) Unknown g.36339574G>A - 1135C>T: R379W - NPHS1_000054 1 Japanese CNF patient (hom) and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Aya et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1135_1136delCG - r.(1135_1136delcg) p.(Arg379Alafs*39) Maternal (confirmed) g.36339573_36339574delCG - c.1134-1135delGC: p.R379fs417X - NPHS1_000053 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1138C>T - r.(1138c>t) p.(Gln380*) Unknown g.36339571G>A - c.1138C>T:p.Gln380X - NPHS1_000055 4 CNF patients (2 hom and 2 com-het) in 2 large partly consangenous Arab-Muslim CNF families PubMed: Frishberg et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? i09 c.1170+2T>C - r.spl? p.? Both (homozygous) g.36339537A>G - - - NPHS1_000140 2 Tunisian siblings with CNF (hom) PubMed: Mbarek et al. 2011 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.1219C>T - r.(1219c>u) p.(Arg407Trp) Both (homozygous) g.36339251G>A - c.C1219T: p.R407W - NPHS1_000056 1 Jordanian CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.1223G>A - r.(?) p.(Arg408Gln) Unknown g.36339247C>T - - - NPHS1_000003 - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1223G>A - r.(?) p.(Arg408Gln) Unknown g.36339247C>T - - - NPHS1_000003 - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
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