Genomic variant #0000038138

Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as c.3426A>G; p.T1182A
ISCN -
DB-ID NPHS1_000138 See all 4 reported entries
Variant remarks variant not possible (incorrect nucleotide/amino acid); 1 early onset nephrotic syndrome patient from Pakistan (hom)
Reference PubMed: Abid et al. 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 ./. - c.? - r.? p.?