Variant #0000830765 (NC_000023.10:g.(22239861_22244559)_(22269427_?)dup, PHEX(NM_000444.4):c.(1899+1_1900-1)_*3357{2})

Individual ID 00397310
Chromosome X
Allele Parent #1
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.(22239861_22244559)_(22269427_?)dup
DNA change (hg38) g.(22221744_22226442)_(22251310_?)dup
Published as c.?−2548dup2833-?
ISCN -
DB-ID USP9X_000005 See all 207 reported entries
Variant remarks -
Reference PubMed: Hernandez-Frias 2019
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
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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     
0000398550 DNA SEQ - - PHEX 1 Johan den Dunnen