Individual #00000208

Reference Kah Lin Khoo et al. (2016)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
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 09:06:03 +08:00 (CST)
Date last edited 2020-12-14 17:12:44 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000223 DNA MLPA;SEQ LDLR 6 Nuur Athirah Binti Mohd Daud



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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 Both (homozygous) ./. g.11102774G>A p.Glu101Lys in exon 3 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000024 rs144172724 3/10 - Nuur Athirah Binti Mohd Daud LDLR 3 NM_000527.4:c.301G>A - r.(?) p.(Glu101Lys) - ClinVar
19 Unknown +/. g.11105566delC c.660delC in exon 4 Kah Lin Khoo et al. (2016) LDLR_000053 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 4 NM_000527.4:c.660delC - r.(?) p.(Asp221Thrfs*44) - -
19 Both (homozygous) +?/. g.11106633T>A Cys255Ser in exon 5 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000027 rs879254668 1/10 - Nuur Athirah Binti Mohd Daud LDLR 5 NM_000527.4:c.763T>A - r.(?) p.(Cys255Ser) - ClinVar
19 Both (homozygous) ./. g.11107484G>A Asp304Asn in exon 6 Kah Lin Khoo et al. (2016), dbSNP, (OMIM 0008), ClinVar LDLR_000006 rs121908030 1/10 - Nuur Athirah Binti Mohd Daud LDLR 6 NM_000527.4:c.910G>A - r.(?) p.(Asp304Asn) - ClinVar
19 Both (homozygous) +?/. g.11120514G>A Cys711Tyr in exon 14 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000052 rs879255145 3/10 - Nuur Athirah Binti Mohd Daud LDLR 14 NM_000527.4:c.2132G>A - r.(?) p.(Cys711Tyr) - ClinVar
19 Unknown +/. g.11128085G>A Val797Met in exon 16 Kah Lin Khoo et al. (2016), ClinVar LDLR_000054 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 16 NM_000527.4:c.2389G>A - r.(?) p.(Val797Met) - -
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