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Variant (rsID / SNP)

rs116466258

SPTA1

rs116466258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,592,982. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:158592982
Cytoband
1q23.1
HGVS
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
Allele change
Missense_D1971N

Associated conditions / phenotypes

Hereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.