Variant #0000000274 (NC_000011.10:g.5227071T>G, NM_000518.4:c.-50A>C (HBB))

Individual ID 00000056
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 CAP +1 (A>C)
Reference E George et al. (1992), dbSNP, (OMIM 0387)
DB-ID HBB_000008 See all 9 reported entries
dbSNP ID rs34305195
Frequency 1/76
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 2020-10-18 10:18:46 +08:00 (CST)
Date last edited 2021-08-19 11:10:18 +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 CAP +1 (A>C) r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000069 DNA PCRm HBB 12 Nuur Athirah Binti Mohd Daud