Variant #0000000175 (NC_000011.10:g.5226929C>A, HBB(NM_000518.4):c.92+1G>T)

Individual ID 00000031
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226929C>A
Published as -
Reference Hassan SdbSNP
DB-ID HBB_000018
dbSNP ID rs33971440
Frequency 1/16
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
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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 ./. 1i c.92+1G>T - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000043 DNA PCRm HBB 5 MyHVP