Variant #0000837367 (NC_000023.10:g.(22245729_22263449)_(22269427_?)dup, PHEX(NM_000444.4):c.(2070+1_2071-1)_*3357{2})

Individual ID 00401826
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(22245729_22263449)_(22269427_?)dup
DNA change (hg38) g.(22227612_22245332)_(22251310_?)dup
Published as dup ex21-22
ISCN -
DB-ID PHEX_000995 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHEX NM_000444.4 ?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000403067 DNA SEQ - - PHEX 1 Johan den Dunnen