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


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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