Genomic variant #0000300373

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342800C>T
DNA change (hg38) g.35851898C>T
Published as NPHS1(NM_004646.3):c.-61G>A
ISCN -
DB-ID NPHS1_000172
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS1 NM_004646.3 -/. - c.-61G>A r.(?) p.(=)
KIRREL2 NM_032123.5 -/. - c.-5222C>T r.(?) p.(=)