Genomic variant #0000038898

Individual ID 00018452
Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341872_36341874del
DNA change (hg38) g.35850970_35850972del
Published as -
ISCN -
DB-ID NPHS1_000146
Variant remarks -
Reference PubMed: Santín et al. 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Elisabet Ars Criach




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +/. 4 c.515_517del - r.(?) p.(Thr172del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018436 DNA SEQ-NG;SEQ-NG-I - - NPHS1 3 Elisabet Ars Criach