Variant #0000827938 (NC_000023.10:g.(22051242_22056586)_(22132705_22151639)dup, PHEX(NM_000444.4):c.(118+1_119-1)_(1302+1_1303-1)dup)

Individual ID 00395095
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.(22051242_22056586)_(22132705_22151639)dup
DNA change (hg38) g.(22033124_22038468)_(22114587_22133522)dup
Published as dup ex2-11
ISCN -
DB-ID PHEX_000687 See all 2 reported entries
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 +/. 1i_11i c.(118+1_119-1)_(1302+1_1303-1)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396341 DNA MLPA;SEQ - - PHEX 1 Johan den Dunnen