Variant #0000000316 (NC_000011.10:g.5227099T>C, HBB(NM_000518.4):c.-78A>G)

Individual ID 00000061
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227099T>C
Published as -28 (A>G)
Reference J A M A Tan et al. (2004), dbSNP, (OMIM 0381), ClinVar
DB-ID HBB_000005 See all 19 reported entries
dbSNP ID rs33931746
Frequency 14/151
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
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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.-78A>G -28 (A>G) r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000074 DNA PCRm HBB 8 Nuur Athirah Binti Mohd Daud