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Variant (rsID / SNP)

rs143155918

SPTBN2

rs143155918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,475,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTBN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:66475184
Cytoband
11q13.2
HGVS
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
Allele change
Missense_A486T

Associated conditions / phenotypes

Spinocerebellar ataxia type 5

Public references

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