Variant #0000837538 (NC_000023.10:g.(?_22050443)_(22208620_22231020)del, PHEX(NM_000444.4):c.-681_(1645+1_1646-1){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.(?_22050443)_(22208620_22231020)del
DNA change (hg38) g.(?_22032325)_(22190503_22212903)del
Published as -
ISCN -
DB-ID PHEX_000710 See all 2 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 +/. _1_15i c.-681_(1645+1_1646-1){0} r.? p.0?