Genomic variant #0000464270

Individual ID 00226216
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably 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 -
ISCN -
DB-ID NPHS1_000001 See all 40 reported entries
Variant remarks -
Reference PubMed: Aya 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.2332 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 -?/. - c.349G>A likely benign r.(?) p.(Glu117Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227291 DNA;RNA RT-PCR;SEQ - - NPHS1 3 Johan den Dunnen