Variant #0000000798 (NC_000011.10:g.5227045G>C, NM_000518.4:c.-24C>G (HBB))

Individual ID 00000162
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227045G>C
Published as CAP +27 (C>G)
Reference
DB-ID HBB_000050
dbSNP ID rs374054030
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 14:53:32 +08:00 (CST)
Date last edited 2021-09-09 11:49:34 +08:00 (CST)
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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.-24C>G CAP +27 (C>G) r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000177 ? ? HBB 3 Nuur Athirah Binti Mohd Daud