Individual #00000523

Reference Sanae Numata et al.(2015)
Gender -
Geographic origin Malaysia
Ethnic origin Indian
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 10:42:02 +08:00 (CST)
Date last edited 2021-08-01 13:26:47 +08:00 (CST)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000178 diagnosed as congenital ichthyosiform erythroderma - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000571 DNA PCR TGM1 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     
14 Unknown +/. g.24259703C>T - Sanae Numata et al.(2015) TGM1_000006 rs577027430 1/17 - Nur Aisyah Athirah TGM1 - NM_000359.2:c.984+1G>A - r.spl? p.? - -
14 Unknown +/. g.24260657G>A - Sanae Numata et al.(2015) TGM1_000005 rs200517023 1/17 - Nur Aisyah Athirah TGM1 - NM_000359.2:c.550C>T - r.(?) p.(Pro184Ser) - Conflicting interpretations of pathogenicity
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