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Variant (rsID / SNP)

rs147235045

SPTB

rs147235045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,253,668. 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
14:65253668
Cytoband
14q23.3
HGVS
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
Allele change
Synonymous_A1005A

Associated conditions / phenotypes

Elliptocytosis|Spherocytosis, Dominant

Public references

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