Genomic variant #0000016858

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36339661A>G
DNA change (hg38) g.35848759A>G
Published as exon 9 nt1048(T>C): Ser350>Pro; c.T1048C: p.S350P
ISCN -
DB-ID NPHS1_000045
Variant remarks 1 French CNF family (com-het) and 1 Romanian CNF patient (com-het)
Reference PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010
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 +?/+? 09 c.1048T>C - r.(1048u>c) p.(Ser350Pro)