Variant (rsID / SNP)

rs7547313

rs7547313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,632,531. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPTA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:158632531
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val)
Allele change: Missense_I809V

Associated conditions / phenotypes

Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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