Variant #0000000419 (NC_000011.10:g.5225486T>C, NM_000518.4:c.*112A>G (HBB))

Individual ID 00000077
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5225486T>C
Published as Poly A (A>G)
Reference Mohd Rashdan Abd Rahim et al. (2015), dbSNP, (OMIM 0386)
DB-ID HBB_000030 See all 7 reported entries
dbSNP ID rs63750954
Frequency 1/2
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 2020-10-21 15:26:04 +08:00 (CST)
Date last edited 2021-08-18 16:57:26 +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     
HBB NM_000518.4 +/. - c.*112A>G Poly A (A>G) r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000090 DNA PCRm HBB 3 Nuur Athirah Binti Mohd Daud