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Variant (rsID / SNP)

rs145675502

SPTB

rs145675502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,262,093. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:65262093
Cytoband
14q23.3
HGVS
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
Allele change
Missense_D536N

Associated conditions / phenotypes

Elliptocytosis|Spherocytosis, Dominant|Elliptocytosis 3

Public references

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