Variant (rsID / SNP)

rs33969677

rs33969677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,246,944. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HBBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:5246944
Cytoband: 11p15.4
HGVS: NM_000518.5(HBB):c.328G>C (p.Val110Leu)
Allele change: Missense_V110M

Associated conditions / phenotypes

HEMOGLOBIN JOHNSTOWN

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.