Variant #0000002812 (NC_000016.10:g.33871G>A, NC_000016.10(NM_000517.6):c.95+1G>A (HBA2))

Individual ID 00000651
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.33871G>A
Published as -
Reference Hafiza Alauddin et al.(2018)
DB-ID HBA2_000003 See all 2 reported entries
dbSNP ID rs63750158
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 2021-05-24 14:27:45 +08:00 (CST)
Date last edited 2023-12-21 12:40:18 +08:00 (CST)
Options




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 IVS-I-1 (G>A) r.spl? p.? - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000718 DNA PCRm;SEQ HBA2 2 Nur Aisyah Athirah