Variant #0000827720 (NC_000023.10:g.(22239861_22244559)_(22269427_?)dup, PHEX(NM_000444.4):c.(1899+1_1900-1)_*3357{2})

Individual ID 00394928
Chromosome X
Allele Paternal (confirmed)
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.(22239861_22244559)_(22269427_?)dup
DNA change (hg38) g.(22221744_22226442)_(22251310_?)dup
Published as c.?-2664dup2949-?
ISCN -
DB-ID USP9X_000005 See all 207 reported entries
Variant remarks -
Reference PubMed: Rodriguez-Rubio 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHEX NM_000444.4 +/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396174 DNA SEQ - - PHEX 1 Johan den Dunnen