Variant (rsID / SNP)

rs63750783

rs63750783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,205. 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: 11:5248205
Cytoband: 11p15.4
HGVS: NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
Allele change: Nonsense_W16X

Associated conditions / phenotypes

Beta zero thalassemia|beta Thalassemia|Hb SS disease

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.