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Variant (rsID / SNP)

rs33919821

HBB

rs33919821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,246,857. Clinical significance in the table: other.

Reference-table entries

HBBOther
Clinical significance (as recorded)
other
Variant type
single nucleotide variant
Chromosome / position
11:5246857
Cytoband
11p15.4
HGVS
NM_000518.4(HBB):c.415G>C (p.Ala139Pro)
Allele change
Missense_A139P

Associated conditions / phenotypes

HEMOGLOBIN BROCKTON

Public references

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