Variant (rsID / SNP)

rs33972047

rs33972047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,193. Clinical significance in the table: Pathogenic.

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Reference-table entries

HBBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:5248193
Cytoband: 11p15.4
HGVS: NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
Allele change: Missense_N20S

Associated conditions / phenotypes

HEMOGLOBIN MALAY|Beta-plus-thalassemia|Beta-Malay-thalassemia|beta Thalassemia

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.