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Variant (rsID / SNP)

rs138055271

SPTA1

rs138055271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,589,105. 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
1:158589105
Cytoband
1q23.1
HGVS
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
Allele change
Missense_Q2146R

Associated conditions / phenotypes

Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2

Public references

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