Genomic variant #0000016852

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.36340212G>A
DNA change (hg38) g.35849310G>A
Published as Ex7, c.767C>T(h) = R256W
ISCN -
DB-ID NPHS1_000039
Variant remarks 1 Arabic CNF patient (hom)
Reference PubMed: Heeringa et al. 2008
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +?/+? 07 c.766C>T - r.(766c>u) p.(Arg256Trp)