Variant #0000830493 (NC_000023.10:g.(22245729_22263449)_(22269427_?)del, PHEX(NM_000444.4):c.(2070+1_2071-1)_*3357{0})

Individual ID 00397043
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.(22245729_22263449)_(22269427_?)del
DNA change (hg38) g.(22227612_22245332)_(22251310_?)del
Published as del ex21-22
ISCN -
DB-ID PHEX_000522 See all 6 reported entries
Variant remarks -
Reference PubMed: Zhang 2019
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 +/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398283 DNA SEQ;MLPA - - PHEX 1 Johan den Dunnen