Genomic variant #0000300393

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340187G>C
DNA change (hg38) -
Published as NPHS1(NM_004646.3):c.791C>G (p.P264R)
ISCN -
DB-ID NPHS1_000006 See all 9 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01599 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 -/. - c.791C>G benign r.(?) p.(Pro264Arg)
KIRREL2 NM_032123.5 -/. - c.-7835G>C benign r.(?) p.(=)