Variant #0000000265 (NC_000011.10:g.5226928A>G, HBB(NM_000518.4):c.92+2T>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.5226928A>G
Published as IVS I-2 (T>C)
Reference E George et al. (1992), dbSNP, (OMIM 0350), ClinVar
DB-ID HBB_000032 See all 3 reported entries
dbSNP ID rs33956879
Frequency 9/141
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
Options




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     
0000000068 DNA PCRm HBB 12 Nuur Athirah Binti Mohd Daud