Genomic variant #0000016824

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.36343207_36343208delTC
DNA change (hg38) g.35852305_35852306delTC
Published as promoter, nt-489(delGA)
ISCN -
DB-ID NPHS1_000011
Variant remarks 1 North African CNF family (hom)
Reference PubMed: Lenkkeri at al. 1999
ClinVar ID -
dbSNP ID rs139954720
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 ?/? 00 c.-469_-468delGA - r.? p.?