Variant (rsID / SNP)

rs35848600

rs35848600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBD. Location: chromosome 11, position 5,254,210. 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: 11:5254210
Cytoband: 11p15.4
HGVS: NM_000519.3(HBD):c.428C>A (p.Ala143Asp)
Allele change: Missense_A143D

Associated conditions / phenotypes

HEMOGLOBIN A(2) FITZROY

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.