Variant #0000825478 (NC_000023.10:g.(?_22050443)_(22117270_22129584)del, PHEX(NM_000444.4):c.-681_(1079+1_1080-1){0})

Individual ID 00393303
Chromosome X
Allele Parent #1
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.(?_22050443)_(22117270_22129584)del
DNA change (hg38) g.(?_22032325)_(22099152_22111466)del
Published as del ex1-9
ISCN -
DB-ID PHEX_000684 See all 2 reported entries
Variant remarks >67 kb deletion
Reference PubMed: Clausmeyer 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHEX NM_000444.4 +/. _1_9i c.-681_(1079+1_1080-1){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394551 DNA MLPA;SEQ - - PHEX 1 Johan den Dunnen