Variant #0000003622 (NC_000016.10:NC_000016.10:g.173384_177187del, NC_000016.10(NM_000517.6):c.300+55_*3587del (HBA2))

Individual ID 00000957
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) NC_000016.10:g.173384_177187del
Published as -α3.7/αα
Reference dbSNP
DB-ID HBA1_000002 See all 8 reported entries
dbSNP ID rs41515552
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
Date created 2021-10-20 15:43:59 +08:00 (CST)
Date last edited 2024-10-15 12:40:07 +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 -α3.7/αα r.? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001133 DNA PCR HBA2 2 Nurul Atika Binti Musa