Variant #0000837936 (NC_000023.10:g.(22239861_22244559)_(22269427_?)del, PHEX(NM_000444.4):c.(1899+1_1900-1)_*3357{0})

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(22239861_22244559)_(22269427_?)del
DNA change (hg38) g.(22221744_22226442)_(22251310_?)del
Published as -
ISCN -
DB-ID PHEX_000705 See all 3 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 ?/. 18i_22_ c.(1899+1_1900-1)_*3357{0} r.? p.?