Variant #0000002878 (NC_000016.10:g.34164_37967del3804, NC_000016.10(NM_000517.6):c.300+55_*3587del (HBA2))

Individual ID 00000694
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.34164_37967del3804
Published as -
Reference Jin-Ai M A Tan et al.(2014)
DB-ID HBA1_000002 See all 8 reported entries
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-06-23 14:13:15 +08:00 (CST)
Date last edited 2021-08-01 13:08:07 +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.300+55_*3587del - r.? p.? - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000768 DNA PCRm;SEQ HBA2 1 Nur Aisyah Athirah