Variant #0000000652 (NC_000016.10:g.173548T>C, NM_000517.6:c.377T>C (HBA2))

Individual ID 00000121
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.173548T>C
Published as -
Reference Rahimah Ahmad et al. (2013)dbSNP
DB-ID HBA2_000001 See all 2 reported entries
dbSNP ID rs41397847
Frequency 13/558
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-03 12:41:59 +08:00 (CST)
Date last edited 2021-08-19 16:14:36 +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 +/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000136 ? ? HBA2 3 Nuur Athirah Binti Mohd Daud