Genomic variant #0000016828

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342494delC
DNA change (hg38) g.35851592delC
Published as Ex2, c.139delG(h) = E46fsX127
ISCN -
DB-ID NPHS1_000015
Variant remarks 3 Hispanic (com-het) and 1 African American (hom) CNF patient
Reference PubMed: Heeringa et al. 2008, PubMed: Ovunc et al. 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
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 +/+ 02 c.139delG - r.(139delg) p.(Ala47Profs*81)