Variant (rsID / SNP)

rs28933077

rs28933077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBD. Location: chromosome 11, position 5,255,256. Clinical significance in the table: other.

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Reference-table entries

HBDOther

Clinical significance (as recorded): other
Variant type: single nucleotide variant
Chromosome / position: 11:5255256
Cytoband: 11p15.4
HGVS: NM_000519.4(HBD):c.280T>G (p.Cys94Gly)
Allele change: Missense_C94G

Associated conditions / phenotypes

HEMOGLOBIN A(2) SANT' ANTIOCO

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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