Individual #00000666

Reference Chee Geap Tay et al.(2015)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases SSADHD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000246 birth weight: 3.1 kg, has multiple seizure types started within 1 month of age, including tonic spasms, hemifocal clonic or tonic seizures, and versive head and eye deviation, axial and truncal hypotonia, generalized hyporeflexia, and global developmental delay. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000733 DNA PCR ALDH5A1 3 Nur Aisyah Athirah



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
6 Both (homozygous) +/. g.24495102G>C - Chee Geap Tay et al.(2015) ALDH5A1_000002 rs4646832 - - Nur Aisyah Athirah ALDH5A1 - NM_001080.3:c.106G>C - r.(?) p.(Gly36Arg) - Benign​
6 Unknown +/. g.24503362C>T - Chee Geap Tay et al.(2015) ALDH5A1_000003 rs2760118 - - Nur Aisyah Athirah ALDH5A1 - NM_001080.3:c.538C>T - r.(?) p.(His180Tyr) - Benign​
6 Both (homozygous) +/. g.24533605_24533607delGAG - Chee Geap Tay et al.(2015) ALDH5A1_000001 - - - Nur Aisyah Athirah ALDH5A1 - NM_001080.3:c.1501_1503delGAG - r.(?) p.(Glu501del) - -
Legend   How to query