Genomic variant #0000016840

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.36341872_36341874delTGG
DNA change (hg38) g.35850970_35850972delTGG
Published as nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del
ISCN -
DB-ID NPHS1_000027
Variant remarks 1 Dutch CNF family (com-het), 1 Middle Eastern (hom) and 1 Egyptian (hom) CNF patient and CNF patients with non specified number and origin
Reference PubMed: Lenkkeri at al. 1999, PubMed: Beltcheva et al. 2001, PubMed: Koziell et al. 2002, 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.515_517delCCA - r.(515_517delcca) p.(Thr172del)