Variant #0000000295 (NC_000011.10:g.5226928A>G, NC_000011.10(NM_000518.4):c.92+2T>C (HBB))

Individual ID 00000058
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226928A>G
Published as IVS I-2 (T>C)
Reference M Sivalingam et al. (2012), dbSNP, (OMIM 0350), ClinVar
DB-ID HBB_000032 See all 3 reported entries
dbSNP ID rs33956879
Frequency 6/396
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 2020-10-18 12:51:26 +08:00 (CST)
Date last edited 2021-08-19 14:22:40 +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 +/. 1i c.92+2T>C IVS I-2 (T>C) r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000071 DNA PCRm HBB 15 Nuur Athirah Binti Mohd Daud