Genomic variant #0000016845

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341340delC
DNA change (hg38) g.35850438delC
Published as exon 5, nt534(delG): frameshift and trunc. 180-res. protein
ISCN -
DB-ID NPHS1_000032
Variant remarks 1 North American CNF family (com-het)
Reference PubMed: Lenkkeri at al. 1999
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/30 CON
Re-site -
VIP -
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 +/+ 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9)