Genomic variant #0000038153

Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342527delC
DNA change (hg38) g.35851625delC
Published as -
ISCN -
DB-ID NPHS1_000145
Variant remarks 1 African patient (com-het) with probable CNF
Reference PubMed: Sabi et al. 2013
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
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 +/+ - c.106delG - r.(?) p.(Ala36Profs*6)