Variant #0000000647 (NC_000016.10:g.173598T>C, NM_000558.5:c.427T>C (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.173598T>C
Published as -
Reference Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001), ClinVar
DB-ID HBA1_000001 See all 19 reported entries
dbSNP ID rs41464951
Frequency 273/1925
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 10:53:34 +08:00 (CST)
Date last edited 2021-08-19 15:56:13 +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 +/. 3 c.427T>C - r.(?) p.(*143Glnext*30) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000134 DNA ? HBA1 4 Nuur Athirah Binti Mohd Daud