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


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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