Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs116959874

SPTA1

rs116959874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,605,725. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SPTA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:158605725
Cytoband
1q23.1
HGVS
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
Allele change
Missense_L1804F

Associated conditions / phenotypes

Elliptocytosis 2|Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary

Public references

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