Individual #00000207

Reference K L Khoo et al. (2000)
Gender M
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 2020-12-01 15:26:27 +08:00 (CST)
Date last edited 2020-12-14 17:12:26 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000222 DNA DGGE;PCR LDLR 1 Nuur Athirah Binti Mohd Daud



Variants

1 entry on 1 page. Showing entry 1.
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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.11113375C>G AAC>AAG at 1283 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000051 rs368708058 1 - Nuur Athirah Binti Mohd Daud LDLR 9 NM_000527.4:c.1284C>G - r.(?) p.(Asn428Lys) - ClinVar
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