Variant #0000003100 (NC_000016.10:g.173008G>A, NC_000016.10(NM_000517.6):c.95+1G>A (HBA2))

Individual ID 00000803
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.173008G>A
Published as -
Reference Rahimah Ahmad et al.(2012),dbSNP
DB-ID HBA2_000003 See all 2 reported entries
dbSNP ID rs63750158
Frequency 23/150
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
Date created 2021-08-04 10:07:42 +08:00 (CST)
Date last edited 2021-11-24 09:26:07 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBA2 NM_000517.6 +/. - c.95+1G>A - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000899 DNA PCR HBA2 3 Noorzalifah Binti Mazuki