Individual #00000055

Reference E George et al. (1992)
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
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Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000068 DNA PCRm HBB 12 Nuur Athirah Binti Mohd Daud



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.63632_71046del Hb Lepore E George et al. (1992), (OMIM 0020) HBB_000029 - 1/141 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.*5154552_*5161966del Hb Lepore r.(=) p.(=) - -
11 Unknown +/. g.5225486T>C Poly A (A>G) AATAAA>AATAGA E George et al. (1992), dbSNP, (OMIM 0386) HBB_000030 rs63750954 1/141 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.*112A>G Poly A (A>G) AATAAA>AATAGA r.(=) p.(=) - ClinVar
11 Unknown +/. g.5225923G>A IVS II-654 C>T E George et al. (1992), dbSNP, (OMIM 0368), ClinVar HBB_000015 rs34451549 4/141 - Nuur Athirah Binti Mohd Daud HBB 2i NM_000518.4:c.316-197C>T IVS II-654 C>T r.(=) p.(=) - ClinVar
11 Unknown ./. g.5226763_5226766delAAAG CD 41/42 (-CTTT) E George et al. (1992), dbSNP, (OMIM 0326), ClinVar HBB_000014 rs80356821 7/141 - 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) E George et al. (1992), dbSNP, (OMIM 0357), ClinVar HBB_000003 rs33915217 45/141 - 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.5226928A>G IVS I-2 (T>C) E George et al. (1992), dbSNP, (OMIM 0350), ClinVar HBB_000032 rs33956879 9/141 - Nuur Athirah Binti Mohd Daud HBB 1i NM_000518.4:c.92+2T>C IVS I-2 (T>C) r.spl? p.? - ClinVar
11 Unknown ./. g.5226929C>A IVS I-1 (G>T) E George et al. (1992), dbSNP, (OMIM 0347), ClinVar HBB_000004 rs33971440 9/141 - 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 GAG>AAG / HbE E George et al. (1992), dbSNP, (OMIM 0071), ClinVar HBB_000006 rs33950507 42/141 - 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.5226963T>C CD 19 (AAC>AGC) / Hb Malay E George et al. (1992), dbSNP, (OMIM 0168) HBB_000012 rs33972047 10/141 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.59A>G CD 19 (AAC>AGC) / Hb Malay r.(?) p.(Asn20Ser) - ClinVar
11 Unknown +/. g.5226970T>A CD 17 (AAG>TAG) E George et al. (1992), dbSNP, (OMIM 0311), ClinVar HBB_000011 rs33986703 7/141 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.52A>T CD 17 (AAG>TAG) r.(?) p.(Lys18*) - ClinVar
11 Unknown ./. g.5227071T>G CAP +1 (A>C) E George et al. (1992), dbSNP, (OMIM 0387) HBB_000008 rs34305195 2/141 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.-50A>C CAP +1 (A>C) r.(=) p.(=) - ClinVar
11 Unknown ./. g.5227099T>C -28 (A>G) E George et al. (1992), dbSNP, (OMIM 0381), ClinVar HBB_000005 rs33931746 3/141 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.-78A>G -28 (A>G) r.(=) p.(=) - ClinVar
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