Genomic variant #0000296603

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.36342212C>T
DNA change (hg38) -
Published as NPHS1(NM_004646.3):c.349G>A (p.E117K)
ISCN -
DB-ID NPHS1_000001 See all 40 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) 0.2332 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 -/. - c.349G>A benign r.(?) p.(Glu117Lys)
KIRREL2 NM_032123.5 -/. - c.-5810C>T benign r.(?) p.(=)