Variant #0000000253 (NC_000011.10:g.5226975C>T, NM_000518.4:c.47G>A (HBB))

Individual ID 00000053
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226975C>T
Published as CD 15 TGG>TAG
Reference Y C Wee et al. (2008), dbSNP, (OMIM 0313), ClinVar
DB-ID HBB_000020 See all 7 reported entries
dbSNP ID rs63750783
Frequency 1/322
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 2020-10-15 15:02:43 +08:00 (CST)
Date last edited 2021-08-19 10:15:24 +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 +/. 1 c.47G>A CD 15 TGG>TAG r.(?) p.(Trp16*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000066 DNA PCRm HBB 18 Nuur Athirah Binti Mohd Daud