Variant #0000000369 (NC_000011.10:g.5226928A>C, NC_000011.10(NM_000518.4):c.92+2T>G (HBB))

Individual ID 00000068
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>C
Published as IVS I-2 (T>G)
Reference Lai Kuan Teh et al. (2014), dbSNP, (OMIM 0349), ClinVar
DB-ID HBB_000040
dbSNP ID rs33956879
Frequency 1/504
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 2020-10-20 10:36:18 +08:00 (CST)
Date last edited 2021-08-19 11:04:00 +08:00 (CST)
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>G IVS I-2 (T>G) r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000081 DNA PCRm HBB 14 Nuur Athirah Binti Mohd Daud