Individual #00000489

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
Date created 2021-03-08 15:27:12 +08:00 (CST)
Date last edited 2021-08-01 13:16:46 +08:00 (CST)


Phenotypes

trichohepatoenteric syndrome (THES)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000154 Severe diarrhoea, prominent forehead, depressed nasal bridge, growth parameters below third percentile - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000535 DNA MCA TTC37 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     
5 Unknown +/. g.95498507dupT - Way Seah Lee et al.(2016) TTC37_000001 rs771031428 - - Nur Aisyah Athirah TTC37 33 NM_014639.3:c.3426dupA - r.(?) p.(Ala1143Serfs*4) - -
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