Genomic variant #0000016825

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_36343214delTCTCTCTC
DNA change (hg38) g.35852305_35852312delTCTCTCTC
Published as promoter, nt-489(del(GA)4)
ISCN -
DB-ID NPHS1_000012
Variant remarks 1 North American CNF family (hom)
Reference PubMed: Lenkkeri at al. 1999
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 ?/? 00 c.-475_-468delGAGAGAGA - r.? p.?