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


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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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)     

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DB-ID     

dbSNP ID     

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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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