Variant #0000000794 (NC_000011.10:g.5227144T>G, HBB(NM_000518.4):c.-123A>C)

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.5227144T>G
Published as -73 A>C
Reference
DB-ID HBB_000049
dbSNP ID -
Frequency 3
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
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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.-123A>C -73 A>C r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000176 ? ? HBB 5 Nuur Athirah Binti Mohd Daud