Individual #00000400

Reference Wan Ariffin Abdullah et al. 1996 (https://www.tm.mahidol.ac.th/seameo/1996-27-1/1996-27-1-164.pdf)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population Kelantan
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
Date created 2021-02-07 14:54:18 +08:00 (CST)
Date last edited 2021-06-07 17:43:24 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000414 DNA PCR HBB 5 Nuur Athirah Binti Mohd Daud



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.5226763_5226766delAAAG CD 41/42 (-CTTT) dbSNP, (OMIM 0326), ClinVar HBB_000014 rs281864900 4/28 - 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 5/28 - 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.5226943C>T CD 26 GAG>AAG / HbE dbSNP, (OMIM 0071), ClinVar HBB_000006 rs33950507 11/28 - 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 dbSNP, (OMIM 0168) HBB_000012 rs33972047 3/28 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.59A>G CD 19 (AAC>AGC) / Hb Malay r.(?) p.(Asn20Ser) - -
11 Unknown +/. g.5226970T>A CD 17 (AAG>TAG) dbSNP, (OMIM 0311), ClinVar HBB_000011 rs33986703 1/28 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.52A>T CD 17 (AAG>TAG) r.(?) p.(Lys18*) - ClinVar
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