Variant #0000000246 (NC_000011.10:g.5226762C>A, NM_000518.4:c.130G>T (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.5226762C>A
Published as CD 43 (GAG>TAG)
Reference Y C Wee et al. (2008), dbSNP, (OMIM 0316), ClinVar
DB-ID HBB_000023 See all 4 reported entries
dbSNP ID rs33922842
Frequency 5/322
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 12:45:31 +08:00 (CST)
Date last edited 2021-08-19 10:03:14 +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 +/. 2 c.130G>T CD 43 (GAG>TAG) r.(?) p.(Glu44*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000066 DNA PCRm HBB 18 Nuur Athirah Binti Mohd Daud