Variant #0000830753 (NC_000023.10:g.(22244626_22245623)_(22269427_?)del, PHEX(NM_000444.4):c.(1965+1_1966-1)_*3357{0})

Individual ID 00397298
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.(22244626_22245623)_(22269427_?)del
DNA change (hg38) g.(22226509_22227506)_(22251310_?)del
Published as c.2532_?del
ISCN -
DB-ID PHEX_000516
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) 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 +/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398538 DNA SEQ - - PHEX 1 Johan den Dunnen