Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200945419

SPTA1

rs200945419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,607,894. 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
1:158607894
Cytoband
1q23.1
HGVS
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)
Allele change
Synonymous_H1706H

Associated conditions / phenotypes

Pyropoikilocytosis, hereditary|Elliptocytosis 2|Hereditary spherocytosis type 3

Public references

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