Variant #0000825476 (NC_000023.10:g.(22263527_22265967)_(22269427_?)del, PHEX(NM_000444.4):c.(2147+1_2148-1)_*3357{0})

Individual ID 00393301
Chromosome X
Allele Maternal (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.(22263527_22265967)_(22269427_?)del
DNA change (hg38) g.(22245410_22247850)_(22251310_?)del
Published as del ex22
ISCN -
DB-ID PHEX_000704
Variant remarks >1.5 kb deletion
Reference PubMed: Clausmeyer 2009
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 +/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394549 DNA MLPA;SEQ - - PHEX 1 Johan den Dunnen