Individual #00000065

Reference Meow-Keong Thong et al. (2005)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
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     
0000000020 - Familial, autosomal recessive - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000078 DNA PCRm HBB 10 Nuur Athirah Binti Mohd Daud



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.5225923G>A IVS II-654 C>T Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0368) HBB_000015 rs34451549 25/91 - Nuur Athirah Binti Mohd Daud HBB 2i NM_000518.4:c.316-197C>T IVS II-654 C>T r.(=) p.(=) - -
11 Unknown +/. g.5226675dupT CD 71/72 (+A) Meow-Keong Thong et al. (2005), ClinVar HBB_000019 rs33969853 2/91 - 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) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0326), ClinVar HBB_000014 rs281864900 41/91 - 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.5226937dupG CD 27/28 (+C) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0342), ClinVar HBB_000038 rs35532010 2/91 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.85dupC CD 27/28 (+C) r.(?) p.(Leu29Profs*16) - ClinVar
11 Unknown +/. g.5226943C>T CD 26 GAG>AAG / HbE Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0071), ClinVar HBB_000006 rs33950507 1/91 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.79G>A CD 26 GAG>AAG / HbE r.(?) p.(Glu27Lys) - ClinVar
11 Unknown +/. g.5226970T>A CD 17 (AAG>TAG) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0311), ClinVar HBB_000011 rs33986703 2/91 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.52A>T CD 17 (AAG>TAG) r.(?) p.(Lys18*) - ClinVar
11 Unknown +/. g.5226975C>T CD 15 TGG>TAG Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0313), ClinVar HBB_000020 rs63750783 1/91 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.47G>A CD 15 TGG>TAG r.(?) p.(Trp16*) - ClinVar
11 Unknown +/. g.5227020A>C Init CD ATG>AGG Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0344), ClinVar HBB_000036 rs33941849 1/91 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.2T>G Init CD ATG>AGG r.? p.? - ClinVar
11 Unknown +/. g.5227099T>C -28 (A>G) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0381), ClinVar HBB_000005 rs33931746 14/91 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.-78A>G -28 (A>G) r.(=) p.(=) - ClinVar
11 Unknown +/. g.5227100T>C -29 (A>G) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0379), ClinVar HBB_000009 rs34598529 1/91 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.-79A>G -29 (A>G) r.(=) p.(=) - ClinVar
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