Individual #00000520

Reference Sanae Numata et al.(2015)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases ARCI
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 2021-03-16 08:54:27 +08:00 (CST)
Date last edited 2021-08-01 13:26:07 +08:00 (CST)


Phenotypes

autosomal recessive congenital ichthyosis (ARCI)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000175 diagnosed as lamellar ichthyosis - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000568 DNA PCR TGM1 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
14 Unknown +/. g.24249477delG - Sanae Numata et al.(2015) TGM1_000002 rs1064794659 1/17 - Nur Aisyah Athirah TGM1 - NM_000359.2:c.2290delC - r.(?) p.(Arg764Alafs*42) - -
14 Unknown +/. g.24261824G>A - Sanae Numata et al.(2015) TGM1_000001 rs886041250 1/17 - Nur Aisyah Athirah TGM1 - NM_000359.2:c.379C>T - r.(?) p.(Arg127*) - Pathogenic
Legend   How to query