Genomic variant #0000079684

Individual ID 00050595
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.36333453C>T
DNA change (hg38) g.35842551C>T
Published as -
ISCN -
DB-ID NPHS1_000124 See all 3 reported entries
Variant remarks splice variant
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00046 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.2335-1G>A - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050540 DNA SEQ;SEQ-NG-I - - NPHS1 2 Johan den Dunnen