Variant #0000825466 (NC_000023.10:g.22266128C>T, PHEX(NM_000444.4):c.*58C>T)

Individual ID 00393272
Chromosome X
Allele Parent #1
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.22266128C>T
DNA change (hg38) g.22248011C>T
Published as [*58C>T;*231A>G]
ISCN -
DB-ID PHEX_000362 See all 8 reported entries
Variant remarks -
Reference PubMed: Ichikawa 2008
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
PHEX NM_000444.4 ?/. 22 c.*58C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394520 DNA SEQ - - PHEX 2 Johan den Dunnen