Variant #0000022131 (NC_000001.10:g.179528895C>A, NPHS2(NM_014625.2):c.?)

Individual ID 00003662
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.179528895C>A
DNA change (hg38) -
Published as c.452+1G>T
ISCN -
DB-ID NPHS2_000000 See all 273 reported entries
Variant remarks Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference Hinkes et al, 2008 (JASN)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Olivier Gribouval
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS2 NM_014625.2 +/? 3i c.? r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003583 DNA SEQ - - NPHS2 1 Olivier Gribouval