Genomic variant #0000016827

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342511_36342512delAG
DNA change (hg38) g.35851609_35851610delAG
Published as Deletion of nucleotides 121-122 (CT) in exon 2; nt121(del2): frameshift, truncated 90-residue protein. Finmajor mutation.
ISCN -
DB-ID NPHS1_000014
Variant remarks Finnish Major CNF mutation (Finmajor): >44 Finnish CNF patients (most hom), 1 North American CNF patient (com-het) and 2 Swedish CNF families (1 hom and 1 com-het)
Reference PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 1/83 FIN CON (h
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 +/+ 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50)