Genomic variant #0000016846

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341300G>A
DNA change (hg38) g.35850398G>A
Published as c.C574T: p.Q193X
ISCN -
DB-ID NPHS1_000033
Variant remarks 1 Arabic CNF patient (com-het)
Reference PubMed: Schoeb et al. 2010
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/93 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS1 NM_004646.3 +/+ 05 c.574C>T r.(574c>u) p.(Gln192*)