Individual #00000210

Reference Kah Lin Khoo et al. (2016)
Gender F
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 10:10:34 +08:00 (CST)
Date last edited 2020-12-14 17:14:26 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000225 DNA MLPA;SEQ LDLR 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 Unknown +/. g.11113332T>G p.Leu414Arg in exon 9 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000047 rs748554592 1/5 - Nuur Athirah Binti Mohd Daud LDLR 9 NM_000527.4:c.1241T>G - r.(?) p.(Leu414Arg) - ClinVar
19 Both (homozygous) ./. g.11113767G>C c.1586+5 G to C in intron 10 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000055 rs781362878 1/5 - Nuur Athirah Binti Mohd Daud LDLR 10i NM_000527.4:c.1586+5G>C - r.spl? p.? - ClinVar
19 Both (homozygous) ./. g.11116882T>C p.Trp576Arg in exon 12 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000056 rs879255000 1/5 - Nuur Athirah Binti Mohd Daud LDLR 12 NM_000527.4:c.1729T>C - r.(?) p.(Trp577Arg) - ClinVar
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