Individual #00001095

Reference Chin Fang Ngim et al. (2014)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HBB
Owner name Mohamad Fouzul Bin Mohd Yusoff
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Mohamad Fouzul Bin Mohd Yusoff


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     
0000000405 Patient had no family or personal history of hypertension, seizures or renal disease at 5 years old and presented with fever, vomiting and drowsiness at 12 years old with severe growth retardation, pallor and massive hepatosplenomegaly. - 5 yrs old - - - - Female - 3.3 g/dL - - - - - - - - - - - - Mohamad Fouzul Bin Mohd Yusoff



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001254 DNA ? HBB 1 Mohamad Fouzul Bin Mohd Yusoff



Variants

1 entry on 1 page. Showing entry 1.
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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.5226943C>T - - HBB_000006 - - - MyHVP HBB 1 NM_000518.5:c.79G>A - NM_000518.5:r.(79g>a) p.(Glu27Lys) coding ClinVar
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