Variant #0000827641 (NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del, PHEX(NM_000444.4):c.(1302+1_1303-1)_(1404+1_1405-1)del)

Individual ID 00394824
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.(22132705_22151639)_(22151742_22186428)del
DNA change (hg38) g.(22114587_22133522)_(22133625_22168311)del
Published as del ex12
ISCN -
DB-ID PHEX_000694 See all 2 reported entries
Variant remarks -
Reference PubMed: Zheng 2020
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 +/. 11i_12i c.(1302+1_1303-1)_(1404+1_1405-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396071 DNA SEQ - - PHEX 1 Johan den Dunnen