Variant #0000000324 (NC_000011.10:g.48795_127698del78904, NM_000518.4:c.*5097900_*5176803del78904 (HBB))

Individual ID 00000061
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.48795_127698del78904
Published as Chinese (Aγδβ)0
Reference J A M A Tan et ai. (2004)
DB-ID HBB_000027
dbSNP ID -
Frequency 2/151
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 2020-10-19 10:42:07 +08:00 (CST)
Date last edited 2020-11-09 16:26:02 +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.*5097900_*5176803del78904 Chinese (Aγδβ)0 r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000074 DNA PCRm HBB 8 Nuur Athirah Binti Mohd Daud