Individual #00000241

Reference E George et al. 2012 (https://www.researchgate.net/publication/233918218_Beta_Thalassaemia_Mutations_in_Malays_A_Simplified_Cost-effective_Strategy_To_Identify_the_Mutations)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
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     
0000000125 - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000256 DNA PCRm HBB 9 Nuur Athirah Binti Mohd Daud



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.5226675dupT CD 71/72 (+A) dbSNPClinVar HBB_000019 rs33969853 2/274 - Nuur Athirah Binti Mohd Daud HBB 2 NM_000518.4:c.217dupA CD 71/72 (+A) r.(?) p.(Ser73Lysfs*2) - ClinVar
11 Unknown +/. g.5226763_5226766delAAAG CD 41/42 (-CTTT) dbSNP, (OMIM 0326), ClinVar HBB_000014 rs281864900 5/274 - Nuur Athirah Binti Mohd Daud HBB 2 NM_000518.4:c.126_129delCTTT CD 41/42 (-CTTT) r.(?) p.(Phe42Leufs*19) - ClinVar
11 Unknown +/. g.5226925C>G IVS I-5 (G>C) dbSNP, (OMIM 0357), ClinVar HBB_000003 rs33915217 34/274 - Nuur Athirah Binti Mohd Daud HBB 1i NM_000518.4:c.92+5G>C IVS I-5 (G>C) r.spl? p.? - ClinVar
11 Unknown +/. g.5226929C>A IVS I-1 (G>T) dbSNP, (OMIM 0347), ClinVar HBB_000004 rs33971440 19/274 - Nuur Athirah Binti Mohd Daud HBB 1i NM_000518.4:c.92+1G>T IVS I-1 (G>T) r.spl? p.? - ClinVar
11 Unknown +/. g.5226943C>T CD 26 G>A / HbE dbSNP, (OMIM 0071), ClinVar HBB_000006 rs33950507 79/274 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.79G>A CD 26 G>A / HbE r.(?) p.(Glu27Lys) - ClinVar
11 Unknown +/. g.5226963T>C CD 19 A>G / Hb Malay dbSNP, (OMIM 0168) HBB_000012 rs33972047 18/274 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.59A>G CD 19 A>G / Hb Malay r.(?) p.(Asn20Ser) - -
11 Unknown +/. g.5226970T>A CD 17 A>T dbSNP, (OMIM 0311), ClinVar HBB_000011 rs33986703 2/274 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.52A>T CD 17 A>T r.(?) p.(Lys18*) - ClinVar
11 Unknown +/. g.5226995dupC CD 8/9 (+G) dbSNP, (OMIM 0325) HBB_000022 rs35699606 1/274 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.27dupG CD 8/9 (+G) r.(?) p.(Ser10Valfs*14) - -
11 Unknown +/. g.5227100T>C -29 (A>G) dbSNP, (OMIM 0379), ClinVar HBB_000009 rs34598529 2/274 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.-79A>G -29 (A>G) r.(=) p.(=) - ClinVar
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