Variant #0000827939 (NC_000023.10:g.(22237221_22239729)_(22269427_?)del, PHEX(NM_000444.4):c.(1768+1_1769-1)_*3357{0))

Individual ID 00395096
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.(22237221_22239729)_(22269427_?)del
DNA change (hg38) g.(22219104_22221612)_(22251310_?)del
Published as del ex18-22
ISCN -
DB-ID PHEX_000701
Variant remarks -
Reference PubMed: Capelli 2015
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 +/. 17i_22_ c.(1768+1_1769-1)_*3357{0) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396342 DNA MLPA;SEQ - - PHEX 1 Johan den Dunnen