Individual #00000206

Reference K L Khoo et al. (2000)
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 2020-12-01 15:19:53 +08:00 (CST)
Date last edited 2020-12-14 17:12:09 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000221 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.11111585C>T CAG>TAG at 1132 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000046 rs879254802 1 - Nuur Athirah Binti Mohd Daud LDLR 8 NM_000527.4:c.1132C>T - r.(?) p.(Gln378*) - ClinVar
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