Genomic variant #0000016830

Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342385dup
DNA change (hg38) g.35851483dupT
Published as c.248insA: frameshift resulting in a premature termination of translation and truncated protein of 83 amino acids
ISCN -
DB-ID NPHS1_000017
Variant remarks 1 Italian CNF family
Reference PubMed: Gigante et al. 2005
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/50 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 +/+ 02 c.248dupA - r.(248dupa) p.(Tyr83*)