Individual #00000768

Reference Joo-San Tan et al.(2016)
Gender M
Geographic origin Sabah
Ethnic origin Kadazandusun
Population -
Remarks -
Microattribution -
Panel size 2
Diseases CMS
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 2021-07-08 09:22:31 +08:00 (CST)
Date last edited 2021-08-01 13:22:47 +08:00 (CST)


Phenotypes

Congenital Myasthenic Syndrome (CMS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000293 ptosis, intermittent “squint,” and subsequently limb muscle weakness on exertion - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000862 DNA DGGE;PCR;SEQ CHAT 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     
10 Unknown +/. g.49625636G>C - Joo-San Tan et al.(2016) CHAT_000001 - - - Nur Aisyah Athirah CHAT 7 NM_020549.4:c.916G>C - r.(?) p.(Val306Leu) - Uncertain significance
10 Unknown +/. g.49664906delTCT - Joo-San Tan et al.(2016) CHAT_000002 rs750942168 - - Nur Aisyah Athirah CHAT 16 NM_020549.4:c.2107delTCT - r.(?) p.(Ser705del) - Uncertain significance​
Legend   How to query