Individual #00000399

Reference Siti Nor Assyuhada Mat Ghani et al. (2021)
Gender -
Geographic origin Malaysia
Ethnic origin -
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000413 DNA PCRm HBB 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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 10/87 - Nuur Athirah Binti Mohd Daud HBB - NM_000518.4:c.217dupA CD 71/72 (+A) r.(?) p.(Ser73Lysfs*2) - ClinVar
11 Unknown +/. g.5226929C>A IVS I-1 (G>T) dbSNP, (OMIM 0347), ClinVar HBB_000004 rs33971440 3/87 - 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 dbSNP, (OMIM 0071), ClinVar HBB_000006 rs33950507 49.87 - Nuur Athirah Binti Mohd Daud HBB 1 NM_000518.4:c.79G>A CD 26 GAG>AAG / HbE r.(?) p.(Glu27Lys) - ClinVar
Legend   How to query