Individual #00000168

Reference Unpublished data
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks This is unpublished data. Please use it with caution!
Microattribution This data was contributed by Dr. Norafiza Mohd Yasin and Dr. Ezalia Esa (Institute for Medical Research, Kuala Lumpur, Malaysia).
Panel size 1
Diseases HBB
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

Beta-thalassaemia (HBB)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Age at thalassemia presentation     

Age at current transfusion (year)     

Age at receiving first blood transfusion (year)     

Frequency of blood transfusion     

Current serum ferritin level     

Gender     

Genotype details     

Hematological parametersat diagnosis Hb level (g/dL)     

Hematological parameters at diagnosis HbA2 (%)     

Hematological parameters at diagnosis HbF (%)     

Height per age     

Height velocity     

Iron chelation     

Hematological parameters at diagnosis MCH (pg)     

Hematological parameters at diagnosis MCV (fL)     

Mid parental height     

Hematological parameters at diagnosis other Hb variants     

Size of spleen (cm)     

Splenectomy done     

Weight per age     

Owner     
0000000079 - Familial, autosomal recessive - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000183 ? ? HBB 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
11 Unknown +?/. g.5226269delT IVS II-308 (-A) HBB_000064 - 4 - Nuur Athirah Binti Mohd Daud HBB 2i NM_000518.4:c.315+308delA IVS II-308 (-A) r.(=) p.(=) - -
11 Unknown -/. g.5226397A>G IVS II-180 (T>C) dbSNP HBB_000056 rs529931134 1 - Nuur Athirah Binti Mohd Daud HBB 2i NM_000518.4:c.315+180T>C IVS II-180 (T>C) r.(=) p.(=) - ClinVar
11 Unknown +/. g.5226971delG CD 16 (GGC>GG-) dbSNP HBB_000044 rs35662066 1 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.51delC CD 16 (GGC>GG-) r.(?) p.(Lys18Argfs*2) - ClinVar
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