Variant #0000021713 (NC_000001.10:g.?, NPHS2(NM_014625.2):c.?)

Individual ID 00003252
Chromosome 1
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID NPHS2_000000 See all 273 reported entries
Variant remarks unknown variant 2nd chromosome
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS2 NM_014625.2 ?/? 1_8 c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003170 DNA SSCA;SEQ - - NPHS2 2 Johan den Dunnen