Individual #00000192

Reference Siti Aishah Abdul Wahab et al. (2016)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases GA1
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud


Phenotypes

Glutaric aciduria type 1 (GA1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000090 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000207 DNA PCR;SEQ GCDH 4 Nuur Athirah Binti Mohd Daud



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
19 Unknown ?/. g.12891930A>C - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000008 rs748185335 2/6 - Nuur Athirah Binti Mohd Daud GCDH 4 NM_000159.3:c.227A>C - r.(?) p.(Gln76Pro) - ClinVar
19 Unknown +/. g.12893540A>T - Siti Aishah Abdul Wahab et al. (2016) GCDH_000009 rs1300977671 1/6 - Nuur Athirah Binti Mohd Daud GCDH 6 NM_000159.3:c.392A>T - r.(?) p.(Glu131Val) - -
19 Unknown +/. g.12897777G>A - Siti Aishah Abdul Wahab et al. (2016) GCDH_000010 - 2/6 - Nuur Athirah Binti Mohd Daud GCDH 11 NM_000159.3:c.1157G>A - r.(?) p.(Arg386Gln) - -
19 Unknown +/. g.12899466A>C - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000002 rs199999619 1/6 - Nuur Athirah Binti Mohd Daud GCDH 11i NM_000159.3:c.1244-2A>C - r.spl? p.? - ClinVar
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