Genomic variant #0000016848

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340543_36340550delinsAA
DNA change (hg38) g.35849641_35849648delinsAA
Published as exon 6, nt603(delCACCCCGG,insTT): Tyr205, Pro206, Arg207→Ile205; Ex6, c.603del8ins2: Y205,P206,R207 = I205; c.613_620delinsTT: p.T205,P206,R207>I205
ISCN -
DB-ID NPHS1_000035
Variant remarks 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)
Reference 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
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/93 CON
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +/+ 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle)