Variant #0000000797 (NC_000011.10:g.5226532T>C, NC_000011.10(NM_000518.4):c.315+45A>G (HBB))

Individual ID 00000161
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226532T>C
Published as IVS II-45 (A>G)
Reference
DB-ID HBB_000046
dbSNP ID -
Frequency 2
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 2020-11-19 12:55:13 +08:00 (CST)
Date last edited 2020-11-24 09:30:03 +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 +?/. 2i c.315+45A>G IVS II-45 (A>G) r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000176 ? ? HBB 5 Nuur Athirah Binti Mohd Daud