Variant #0000837864 (NC_000023.10:g.(22208620_22231020)_(22269427_?)del, PHEX(NM_000444.4):c.(1645+1_1646-1)_*3357{0})

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.(22208620_22231020)_(22269427_?)del
DNA change (hg38) g.(22190503_22212903)_(22251310_?)del
Published as -
ISCN -
DB-ID USP9X_000005 See all 207 reported entries
Variant remarks -
Reference PubMed: Sarafrazi 2022
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHEX NM_000444.4 +/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?