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Variant (rsID / SNP)

rs33974228

HBB

rs33974228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,218. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HBBUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:5248218
Cytoband
11p15.4
HGVS
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
Allele change
Missense_V12F

Associated conditions / phenotypes

HEMOGLOBIN HAMILTON|beta Thalassemia|Fetal hemoglobin quantitative trait locus 1|Hb SS disease|Hemoglobin E

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.