Genomic variant #0000016910

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.36333296G>A
DNA change (hg38) g.35842394G>A
Published as exon 18 nt2491(C>T): Arg831>Cys
ISCN -
DB-ID NPHS1_000097 See all 3 reported entries
Variant remarks 1 North American CNF family (het)
Reference PubMed: Lenkkeri at al. 1999
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/30 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS1 NM_004646.3 +?/+? 18 c.2491C>T r.(2491c>u) p.(Arg831Cys)