Variant #0000824441 (NC_000023.10:g.?, PHEX(NM_000444.4):c.-681_(349+1_350-1){0})

Individual ID 00392418
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.?
DNA change (hg38) -
Published as del ex1-3
ISCN -
DB-ID USP9X_000005 See all 207 reported entries
Variant remarks -
Reference PubMed: Holm 2001
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 +/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393660 DNA SSCA;SEQ - - PHEX 1 Johan den Dunnen