Variant (rsID / SNP)

rs35939430

rs35939430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,246,884. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HBBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:5246884
Cytoband: 11p15.4
HGVS: NM_000518.4(HBB):c.388G>C (p.Ala130Pro)
Allele change: Missense_A130P

Associated conditions / phenotypes

HEMOGLOBIN CRETE|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.