Variant #0000825462 (NC_000023.10:g.22266301A>G, PHEX(NM_000444.4):c.*231A>G)

Individual ID 00393294
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22266301A>G
DNA change (hg38) g.22248184A>G
Published as [*58C>T;*231A>G]
ISCN -
DB-ID PHEX_000313 See all 23 reported entries
Variant remarks not in 867 control chromosomes
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.*231A>G r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394542 DNA SEQ - - PHEX 2 Johan den Dunnen