Variant #0000000196 (NC_000011.10:g.5227071T>G, NM_000518.4:c.-50A>C (HBB))

Individual ID 00000038
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227071T>G
Published as -
Reference Hassan et al. (2013)dbSNP
DB-ID HBB_000008 See all 9 reported entries
dbSNP ID rs34305195
Frequency 2/140
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2020-09-30 11:18:49 +08:00 (CST)
Date last edited 2021-08-18 15:59:44 +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.-50A>C - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000050 DNA PCRm HBB 1 MyHVP