Individual #00000049

Reference Yatim et al. (2014)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HBB
Owner name MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000062 DNA PCRm HBB 6 MyHVP



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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 - Yatim et al. (2014)dbSNP HBB_000014 rs80356821 9/40 - MyHVP HBB 2 NM_000518.4:c.126_129delCTTT - r.(?) p.(Phe42Leufs*19) - ClinVar
11 Unknown +/. g.5226925C>G - Yatim et al. (2014)dbSNP HBB_000003 rs33915217 11/40 - MyHVP HBB - NM_000518.4:c.92+5G>C - r.spl? p.? - ClinVar
11 Unknown ./. g.5226929C>A - Yatim et al. (2014)dbSNP HBB_000004 rs33971440 9/40 - MyHVP HBB - NM_000518.4:c.92+1G>T - r.spl? p.? - ClinVar
11 Unknown +/. g.5226970T>A - Yatim et al. (2014)dbSNP HBB_000011 rs33986703 2/40 - MyHVP HBB 1 NM_000518.4:c.52A>T - r.(?) p.(Lys18*) - ClinVar
11 Unknown +/. g.5226975C>T - Yatim et al. (2014)dbSNP HBB_000020 rs63750783 2/40 - MyHVP HBB 1 NM_000518.4:c.47G>A - r.(?) p.(Trp16*) - ClinVar
11 Unknown +/. g.5226995dupC - Yatim et al. (2014)dbSNP HBB_000022 rs35699606 1/40 - MyHVP HBB 1 NM_000518.4:c.27dupG - r.(?) p.(Ser10Valfs*14) - ClinVar
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