Individual #00000506

Reference J K Chahil et al.(2012)
Gender M
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 2
Diseases FH
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-11 15:16:49 +08:00 (CST)
Date last edited 2021-08-01 13:22:26 +08:00 (CST)


Phenotypes

Familial hypercholesterolemia (FH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000195 Arcus cornealis, Xanthomas, Tendinous xanthomata, Tuberous xanthomas, Tendon xanthomas, Cardiomegaly - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000553 DNA PCR;SEQ LDLR 1 Nur Aisyah Athirah



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 Both (homozygous) +?/. g.11120514G>A - J K Chahil et al.(2012) LDLR_000052 rs879255145 - - Nur Aisyah Athirah LDLR 14 NM_000527.4:c.2132G>A - r.(?) p.(Cys711Tyr) - Likely pathogenic
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