Genomic variant #0000016841

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341873delG
DNA change (hg38) g.35850971delG
Published as c.516delC: p.T712fs175X
ISCN -
DB-ID NPHS1_000028
Variant remarks 2 CNF patients (com-het)
Reference PubMed: Philippe et al. 2008
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 +/+ 04 c.516delC - r.(516delc) p.(Ile173Phefs*3)