Variant #0000000649 (NC_000016.10:g.177012G>A, NM_000558.5:c.179G>A (HBA1))

Individual ID 00000119
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.177012G>A
Published as -
Reference Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174)
DB-ID HBA1_000003 See all 2 reported entries
dbSNP ID rs28928878
Frequency 113/1925
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 11:41:14 +08:00 (CST)
Date last edited 2021-08-19 16:02:12 +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     
HBA1 NM_000558.5 +/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000134 DNA ? HBA1 4 Nuur Athirah Binti Mohd Daud