Variant #0000003116 (NC_000011.10:g.5226606T>C, HBB(NM_000518.4):c.286A>G)

Individual ID 00000803
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226606T>C
Published as -
Reference Rahimah Ahmad et al.(2012),dbSNP
DB-ID HBB_000067
dbSNP ID rs33914359
Frequency 14/150
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.4 ?/. - c.286A>G - r.(?) p.(Lys96Glu) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000901 DNA PCR HBB 1 Noorzalifah Binti Mazuki