Variant #0000000813 (NC_000011.10:g.5225771C>G, NC_000011.10(NM_000518.4):c.316-45G>C (HBB))

Individual ID 00000166
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5225771C>G
Published as IVS II-806 (G>C)
Reference dbSNP
DB-ID HBB_000062
dbSNP ID rs140033163
Frequency 1
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 16:14:36 +08:00 (CST)
Date last edited 2021-08-23 11:19:32 +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.316-45G>C IVS II-806 (G>C) r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000181 ? ? HBB 2 Nuur Athirah Binti Mohd Daud