Variant #0000824221 (NC_000023.10:g.22050695A>G, PHEX(NM_000444.4):-)

Individual ID 00392221
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.22050695A>G
DNA change (hg38) g.22032577A>G
Published as -
ISCN -
DB-ID PHEX_000082
Variant remarks -
Reference PubMed: Dixon 1998
ClinVar ID -
dbSNP ID -
Origin Germline
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 - r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393463 DNA SSCA;SEQ - - PHEX 1 Johan den Dunnen