Genomic variant #0000016838

Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341889G>A
DNA change (hg38) g.35850987G>A
Published as c.C500T: p.P167L
ISCN -
DB-ID NPHS1_000025
Variant remarks 1 Indian CNF family (hom)
Reference PubMed: Schoeb et al. 2010
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/93 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 +?/+? 04 c.500C>T - r.(500c>u) p.(Pro167Leu)