Genomic variant #0000346996

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340520A>C
DNA change (hg38) -
Published as NPHS1(NM_004646.2):c.644T>G (p.Leu215Arg)
ISCN -
DB-ID NPHS1_000189
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +/. - c.644T>G pathogenic r.(?) p.(Leu215Arg)
KIRREL2 NM_032123.5 +/. - c.-7502A>C pathogenic r.(?) p.(=)