Variant (rsID / SNP)

rs34214405

rs34214405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,615,292. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:158615292
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile)
Allele change: Missense_R1330I

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.