Variant #0000000125 (NC_000001.10:g.5935064T>C, NPHP4(NM_015102.4):c.2914A>G)

Individual ID 00000039, 00398534
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5935064T>C
DNA change (hg38) g.5875004T>C
Published as -
ISCN -
DB-ID NPHP4_000003 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00279 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHP4 NM_015102.4 ?/. - c.2914A>G r.(?) p.(Ser972Gly)
HUWE1 NM_031407.5 +/. _1_84_ c.-426_*1213{2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000039 DNA SEQ-NG - - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 14 Global Variome, with Curator vacancy
0000399780 DNA arrayCGH - - - 2 Johan den Dunnen