Individual #00000191

Reference Siti Aishah Abdul Wahab et al. (2016)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
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     
0000000089 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000206 DNA PCR;SEQ GCDH 7 Nuur Athirah Binti Mohd Daud



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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.12893530C>T - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000007 rs752334462 1/8 - Nuur Athirah Binti Mohd Daud GCDH - NM_000159.3:c.382C>T - r.(?) p.(Arg128*) - ClinVar
19 Unknown +/. g.12896949G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000001 rs761765983 1/8 - Nuur Athirah Binti Mohd Daud GCDH 9 NM_000159.3:c.892G>A - r.(?) p.(Ala298Thr) - ClinVar
19 Unknown ./. g.12897406G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000003 rs768925619 1/8 - Nuur Athirah Binti Mohd Daud GCDH 10 NM_000159.3:c.1060G>A - r.(?) p.(Gly354Ser) - ClinVar
19 Unknown ./. g.12897409C>T - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000005 rs781477694 2/8 - Nuur Athirah Binti Mohd Daud GCDH - NM_000159.3:c.1063C>T - r.(?) p.(Arg355Cys) - ClinVar
19 Unknown +/. g.12897788G>T - Siti Aishah Abdul Wahab et al. (2016) GCDH_000004 rs876660106 1/8 - Nuur Athirah Binti Mohd Daud GCDH - NM_000159.3:c.1168G>T - r.(?) p.(Gly390Trp) - -
19 Unknown +/. g.12899466A>C - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000002 rs199999619 1/8 - Nuur Athirah Binti Mohd Daud GCDH 11i NM_000159.3:c.1244-2A>C - r.spl? p.? - ClinVar
19 Unknown ?/. g.12899485G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000006 rs151201155 1/8 - Nuur Athirah Binti Mohd Daud GCDH - NM_000159.3:c.1261G>A - r.(?) p.(Ala421Thr) - ClinVar
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