Variant #0000827959 (NC_000023.10:g.(22151742_22186428)_(22186507_22196389)del, PHEX(NM_000444.4):c.(1404+1_1405-1)_(1482+1_1483-1)del)

Individual ID 00395115
Chromosome X
Allele Unknown
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.(22151742_22186428)_(22186507_22196389)del
DNA change (hg38) g.(22133625_22168311)_(22168390_22178272)del
Published as del ex13
ISCN -
DB-ID PHEX_000695 See all 3 reported entries
Variant remarks -
Reference PubMed: Bai 2018
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 +/. 12i_13i c.(1404+1_1405-1)_(1482+1_1483-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396361 DNA MLPA;SEQ - - PHEX 1 Johan den Dunnen