Individual #00000746

Reference L A Chong et al.(2009)
Gender M
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases DKC
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 2021-06-30 09:28:34 +08:00 (CST)
Date last edited 2021-08-01 13:18:44 +08:00 (CST)


Phenotypes

Dyskeratosis Congenita (DKC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000281 has brittle nails, leukoplakia, truncal hyperpigmentation and progressive dysphagia, hypoplasia. Died at 12 y/o. Familial, X-linked recessive Nur Aisyah Athirah



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000840 DNA DHPLC;PCRdig;SEQ DKC1 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     

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DB-ID     

dbSNP ID     

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Owner     

Gene     

Exon     

DNA change (cDNA)     

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Protein     

GVS function     

Clinical classification     
X Unknown +/. g.15397C>T - L A Chong et al.(2009) DKC1_000001 rs121912288 - - Nur Aisyah Athirah DKC1 - NM_001363.5:c.1058C>T - r.(?) p.(Ala353Val) - Pathogenic
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