Genomic variant #0000349742

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340237C>A
DNA change (hg38) -
Published as NPHS1(NM_004646.3):c.741G>T (p.Trp247Cys)
ISCN -
DB-ID NPHS1_000188
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.741G>T likely pathogenic r.(?) p.(Trp247Cys)
KIRREL2 NM_032123.5 +?/. - c.-7785C>A likely pathogenic r.(?) p.(=)