Variant #0000000793 (NC_000011.10:g.5225337A>G, NM_000518.4:c.*261T>C (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.5225337A>G
Published as 3'UTR +261 T>C
Reference
DB-ID HBB_000045 See all 2 reported entries
dbSNP ID -
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 12:17:24 +08:00 (CST)
Date last edited 2020-11-24 09:28:43 +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 +?/. - c.*261T>C 3'UTR +261 T>C r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000176 ? ? HBB 5 Nuur Athirah Binti Mohd Daud