Genomic variant #0000016849

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340502_36340503delCT
DNA change (hg38) g.35849600_35849601delCT
Published as nt661 (delAG): Frameshift and truncation
ISCN -
DB-ID NPHS1_000036
Variant remarks 1 English CNF patient (com-het)
Reference PubMed: Koziell et al. 2002
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
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 +/+ 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31)