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Variant (rsID / SNP)

rs142775522

SPTA1

rs142775522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,585,122. 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
1:158585122
Cytoband
1q23.1
HGVS
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
Allele change
Missense_E2224D

Associated conditions / phenotypes

Pyropoikilocytosis, hereditary|Elliptocytosis 2|Hereditary spherocytosis type 3|Congenital hemolytic anemia

Public references

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