Individual #00000488

Reference Way Seah Lee et al.(2016)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases THES
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

trichohepatoenteric syndrome (THES)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000153 Severe FTT, prominent forehead, depressed nasal bridge, hair is sparse, depigmented, easily removed and unmanageable - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000534 DNA MCA SKIV2L 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
6 Unknown +/. g.31964262G>A - Way Seah Lee et al.(2016) SKIV2L_000001 rs9342464 - - Nur Aisyah Athirah SKIV2L 17 NM_006929.4:c.1891G>A - r.(?) p.(Gly631Ser) - -
6 Unknown +/. g.31968877C>T - Way Seah Lee et al.(2016) SKIV2L_000002 rs138923214 - - Nur Aisyah Athirah SKIV2L 26, NM_006929.4:c.3187C>T, XR_001743586.2:n.3286C>T, XR_926301.3:n.3203C>T - r.(?) p.(Arg1063*), - - -
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