Genomic variant #0000016850

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340472G>T
DNA change (hg38) g.35849570G>T
Published as 692C>A: S231X
ISCN -
DB-ID NPHS1_000037
Variant remarks CNF patients with non specified number and origin.
Reference PubMed: Beltcheva et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +/+ 06 c.692C>A - r.(692c>a) p.(Ser231*)