Variant (rsID / SNP)

rs229587

rs229587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,263,300. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:65263300
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)
Allele change: Missense_S439N

Associated conditions / phenotypes

Elliptocytosis|Spherocytosis, Dominant|Hereditary spherocytosis type 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.