Variant #0000837228 (NC_000023.10:g.(?_22050443)_(22056656_22065167)del, PHEX(NM_000444.4):c.-681_(187+1_188-1){0})

Individual ID 00401687
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_22050443)_(22056656_22065167)del
DNA change (hg38) g.(?_22032325)_(22038538_22047049)del
Published as del ex1-2
ISCN -
DB-ID PHEX_000706 See all 2 reported entries
Variant remarks -
Reference PubMed: Sarafrazi 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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_2i c.-681_(187+1_188-1){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000402928 DNA SEQ - - PHEX 1 Johan den Dunnen