Variant #0000830920 (NC_000023.10:g.22266301A>G, PHEX(NM_000444.4):c.*231A>G)

Individual ID 00397462
Chromosome X
Allele Maternal (confirmed)
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.22266301A>G
DNA change (hg38) g.22248184A>G
Published as -
ISCN -
DB-ID PHEX_000313 See all 23 reported entries
Variant remarks high frequency of variant esp. in male cases
Reference PubMed: Mumm 2015
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 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.*231A>G r.? p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398701 DNA SEQ - - PHEX 1 Johan den Dunnen