Individual #00000211

Reference Kah Lin Khoo et al. (2016)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases FH
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 2020-12-02 10:52:19 +08:00 (CST)
Date last edited 2020-12-14 17:14:48 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000226 DNA MLPA;SEQ LDLR 1 Nuur Athirah Binti Mohd Daud



Variants

1 entry on 1 page. Showing entry 1.
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     
19 Both (homozygous) +/. g.11123345G>T c.2311+1 G to T in intron 15 Kah Lin Khoo et al. (2016), ClinVar LDLR_000057 - 1/2 - Nuur Athirah Binti Mohd Daud LDLR 15i NM_000527.4:c.2311+1G>T - r.spl? p.? - -
Legend   How to query