Genomic variant #0000016833

Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342242C>T
DNA change (hg38) g.35851340C>T
Published as c.319G>A: p.A107T
ISCN -
DB-ID NPHS1_000020
Variant remarks 1 CNF patient (com-het)
Reference PubMed: Philippe et al. 2008
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/94 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +?/+? 03 c.319G>A - r.(319g>a) p.(Ala107Thr)