Variant #0000830763 (NC_000023.10:g.(22208620_22231020)_(22269427_?)del, PHEX(NM_000444.4):c.(1645+1_1646-1)_*3357{0})

Individual ID 00397308
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(22208620_22231020)_(22269427_?)del
DNA change (hg38) g.(22190503_22212903)_(22251310_?)del
Published as c.2211_?del
ISCN -
DB-ID USP9X_000005 See all 207 reported entries
Variant remarks -
Reference PubMed: Hernandez-Frias 2019
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 +/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398548 DNA SEQ - - PHEX 1 Johan den Dunnen