Variant #0000830434 (NC_000023.10:g.(22108616_22112100)_(22115157_22117123)del, PHEX(NM_000444.4):c.(732+1_733-1)_(933+1_934-1)del)

Individual ID 00396983
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.(22108616_22112100)_(22115157_22117123)del
DNA change (hg38) g.(22090498_22093982)_(22097039_22099005)del
Published as del ex7-8
ISCN -
DB-ID PHEX_000689 See all 2 reported entries
Variant remarks -
Reference PubMed: Boukpessi 2017
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 +/. 6i_8i c.(732+1_733-1)_(933+1_934-1)del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398224 DNA SEQ - - PHEX 1 Johan den Dunnen