Genomic variant #0000016847

Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340557T>G
DNA change (hg38) g.35849655T>G
Published as c.609-2A>C
ISCN -
DB-ID NPHS1_000034
Variant remarks 1 CNF patient (com-het)
Reference PubMed: Philippe et al. 2008
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +?/+? i05 c.609-2A>C - r.spl? p.?