Variant #0000000284 (NC_000011.10:g.5227159G>A, HBB(NM_000518.4):c.-138C>T)

Individual ID 00000057
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227159G>A
Published as -88 (C>T)
Reference E George et al. (1992), dbSNP, (OMIM 0372)
DB-ID HBB_000031
dbSNP ID rs33944208
Frequency 1/7
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.-138C>T -88 (C>T) r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000070 DNA PCRm HBB 4 Nuur Athirah Binti Mohd Daud