Variant #0000001444 (NC_000023.11:g.22227511A>G, NM_000444.5:c.1970A>G (PHEX))

Individual ID 00000299
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.22227511A>G
Published as Y657C
Reference dbSNP,ClinVar
DB-ID PHEX_000002
dbSNP ID rs193922721
Frequency 1/2
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-27 08:40:43 +08:00 (CST)
Date last edited 2021-08-29 11:00:21 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PHEX NM_000444.5 +?/. - c.1970A>G - r.(?) p.(Tyr657Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000314 DNA PCR PHEX 2 Nuur Athirah Binti Mohd Daud