Individual #00000299

Reference Nurul Nadirah Razali et al. 2019 (//www.researchgate.net/publication/338207897)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HR
Owner name 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 2020-12-24 16:00:24 +08:00 (CST)
Date last edited 2020-12-27 16:12:54 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000314 DNA PCR PHEX 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
X Unknown ./. g.22033015G>C - dbSNP, ClinVar PHEX_000001 rs147859619 1/2 - Nuur Athirah Binti Mohd Daud PHEX - NM_000444.5:c.10G>C - r.(?) p.(Glu4Gln) - ClinVar
X Unknown +?/. g.22227511A>G Y657C dbSNP,ClinVar PHEX_000002 rs193922721 1/2 - Nuur Athirah Binti Mohd Daud PHEX - NM_000444.5:c.1970A>G - r.(?) p.(Tyr657Cys) - ClinVar
Legend   How to query