Variant #0000000266 (NC_000011.10:g.5226925C>G, HBB(NM_000518.4):c.92+5G>C)

Individual ID 00000055
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226925C>G
Published as IVS I-5 (G>C)
Reference E George et al. (1992), dbSNP, (OMIM 0357), ClinVar
DB-ID HBB_000003 See all 32 reported entries
dbSNP ID rs33915217
Frequency 45/141
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
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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 +/. 1i c.92+5G>C IVS I-5 (G>C) r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000068 DNA PCRm HBB 12 Nuur Athirah Binti Mohd Daud