Genomic variant #0000567027

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340508G>A
DNA change (hg38) -
Published as NPHS1(NM_004646.3):c.656C>T (p.(Ala219Val))
ISCN -
DB-ID NPHS1_000203
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 -?/. - c.656C>T likely benign r.(?) p.(Ala219Val)
KIRREL2 NM_032123.5 -?/. - c.-7514G>A likely benign r.(?) p.(=)